A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673110



Internal ID9939215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112837703..112838244hg38UCSC Ensembl
chr3:112556550..112557091hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5589424, essv5683057, essv5901222, essv6029083, essv6589712, essv5655562, essv6002435, essv5853347, essv6331483, essv6419064, essv6114829, essv5754639, essv6094614, essv5762151, essv5436274, essv6452553, essv5629110, essv5564205, essv5639880, essv6548762, essv5965915, essv5619299, essv6343652, essv5867491, essv5429016, essv6257820, essv6316787, essv5517769, essv5699235, essv6314104, essv5642665, essv6188169, essv6036900, essv6036504, essv6468214
SamplesNA19394, NA19909, NA18507, NA19350, NA19092, NA19355, NA19819, NA18942, NA20287, NA18874, HG01072, NA19372, NA19235, NA19207, NA19239, NA19445, HG01136, NA19462, NA18499, NA19099, NA19401, NA19390, NA19256, NA19434, NA19444, NA19380, NA19428, HG01342, NA19472, NA19468, NA19102, NA19900, NA19129, NA18522, NA19429
Known GenesCD200R1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673110
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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