A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674103



Internal ID9940208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73614031..73621429hg38UCSC Ensembl
chr10:75373789..75381187hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg387399
hg197399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv155e199
Supporting Variantsessv5577214, essv5839284, essv6034067, essv6445481, essv5648403, essv5569454, essv6402080, essv6405565, essv6358191, essv5466657, essv6321022, essv6221541, essv5435897, essv6053546, essv5713376, essv6052927, essv6448132, essv6285777, essv6083625, essv6237912, essv6511175, essv5523582, essv5616424, essv6576456, essv6014301, essv5667682, essv5641753, essv6266980, essv6085865, essv5949427, essv6569472
SamplesNA18924, NA18508, HG01188, NA19920, NA19107, NA19374, NA19373, NA18498, NA20287, NA19130, HG01134, NA19189, HG01124, NA19462, NA19391, NA18910, NA18871, NA19449, NA18499, NA19453, NA19395, NA19401, NA19440, NA19444, NA19439, NA19428, NA19467, NA18501, NA19102, HG01377, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674103
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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