A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675891



Internal ID9595310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83634418..83635356hg38UCSC Ensembl
Outerchr16:83634379..83635413hg38UCSC Ensembl
Innerchr16:83668023..83668961hg19UCSC Ensembl
Outerchr16:83667984..83669018hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6260658, essv6083081, essv5790221, essv6064146, essv5954214, essv5582905, essv5464200, essv5948793, essv6251612, essv5710616, essv6158416, essv5414847, essv6490496, essv6111202, essv6147405, essv5500140, essv6170575
SamplesNA20761, NA18947, HG00249, NA19819, NA18596, HG01518, NA18944, NA18519, HG00419, HG00282, HG01102, HG00324, NA19682, HG00565, NA19835, HG00125, HG01082
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675891
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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