8a144988470f693d6618c13ba5fe364b56b428d2 dschmelt Fri Oct 9 14:36:38 2020 -0700 Correcting relative links for #25207 diff --git src/hg/makeDb/trackDb/human/clinvar.html src/hg/makeDb/trackDb/human/clinvar.html index f159e94..83c0118 100644 --- src/hg/makeDb/trackDb/human/clinvar.html +++ src/hg/makeDb/trackDb/human/clinvar.html @@ -43,49 +43,49 @@ Mouseover 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.

Entries in the ClinVar CNVs track are colored by type of variant, among others:

red for loss
blue for gain
purple for inversion
orange for insertion

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. Detailed information on the CNV color code is described -here. +here.

Entries in the ClinVar SNVs track are colored by clinical significance:

red for pathogenic
dark blue for variant of uncertain significance
green for benign
dark grey for not provided
light blue for conflicting

Items can be filtered according to the size of the variant, variant type, clinical significance, allele origin, and molecular consequence, using the track Configure options. Each subtrack has separate display controls, as described -here. +here.

For the human genome version hg19: the hg19 genome released by UCSC in 2009 had a mitochondrial genome "chrM" that was not the same as the one later used for most databases like ClinVar. As a result, we added the official mitochondrial genome in 2020 as "chrMT" and all mitochondrial annotations of ClinVar and most other databases are shown on the mitochondrial genome called "chrMT". For full description of the issue of the mitochondrial genome in hg19, please see the README file on our download site.

Data updates

ClinVar publishes a new release on the first Thursday every month