c1ba9dbcaee6d59daac43709a1af950915fe4121 abenetpa Wed Sep 30 06:42:54 2020 -0700 added CNV color code link and desc. refs #25207 diff --git src/hg/makeDb/trackDb/human/clinvar.html src/hg/makeDb/trackDb/human/clinvar.html index a7f3661..8edd0f6 100644 --- src/hg/makeDb/trackDb/human/clinvar.html +++ src/hg/makeDb/trackDb/human/clinvar.html @@ -33,36 +33,39 @@ However, be aware that the ClinVar conventions are different from the VCF standard. Variants may be right-aligned or may contain additional context, e.g. for inserts. ExAC/gnomAD make available <a href="https://github.com/macarthur-lab/clinvar" target="_blank">a converter</a> to make ClinVar more comparable to VCF files.</p> <h2>Display Conventions and Configuration</h2> <p> The genomic locations of ClinVar variants are labelled with the ClinVar variant descriptions. <b>Mouseover</b> on items shows variant details, clinical interpretation, and associated conditions. Further information on each variant is displayed on the details page by a click onto any variant. </p> <p> -Entries in the <b>ClinVar CNV track</b> are colored by <b>type of variant</b>: -<b><font color="da2c37">red for loss</font></b>, -<b><font color="294eae">blue for gain</font></b>, and -<b><font color="840876">purple for insertion</font></b>. -A light-to-dark color gradient indicates the clinical significance of each variant, with the -lightest shade being benign, to the darkest shade being pathogenic. +Entries in the <b>ClinVar CNVs track</b> are colored by <b>type of variant</b>, among others, +<b><font color="red">red for loss</font></b>, +<b><font color="blue">blue for gain</font></b>, +<b><font color="purple">purple for inversion</font></b>, and +<b><font color="orange">orange for insertion</font></b>. +A light-to-dark color gradient indicates the <b>clinical significance</b> of each variant, with the +lightest shade being benign, to the darkest shade being pathogenic. Detailed information on the +CNV color code is described +<a href="https://genome.ucsc.edu/goldenPath/help/hgCnvColoring.html">here</a>. </p> <p> Entries in the <b>ClinVar SNVs track</b> are colored by <b>clinical significance</b>: <b><font color="d20000">red for pathogenic</font></b>, <b><font color="000088">dark blue for variant of uncertain significance</font></b>, <B><font color="#00d200">green for benign</font></b>, <B><font color="#888">dark grey for not provided</font></b>, and <B><font color="#8979D4">light blue for conflicting</font></b>. </p> <p> Items can be filtered according to the size of the variant, variant type, clinical significance, allele origin, and molecular consequence, using the track <b>Configure</b> options. Each subtrack has separate display controls, as described