A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663054



Internal ID9582473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99400169..99408992hg38UCSC Ensembl
chr12:99793947..99802770hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388824
hg198824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv306e199
Supporting Variantsessv6588666, essv6398520, essv6379198, essv5591964, essv5697453, essv6297704, essv5521948, essv6384303, essv6021986, essv5433867, essv5481270, essv5834366, essv6279833, essv5511686, essv6066623, essv5803161, essv5465529, essv6512597, essv6034005, essv6360240, essv6473477, essv6281372, essv5479790, essv5948009, essv6287664, essv6364161, essv5968905, essv5599294, essv6165713, essv5738420, essv5868077, essv6085345, essv5938667, essv6072230, essv6268317, essv5595171, essv5570423, essv6378134, essv5635577, essv6164645, essv6014542, essv5703069, essv6150027, essv6293046, essv5989825, essv6503015, essv6207386, essv6510951, essv6515277, essv5889208, essv6200152
SamplesNA18502, HG01060, HG01098, NA18924, NA19204, NA18861, HG01052, HG01079, HG01188, NA18486, HG00737, NA19190, NA18870, HG00641, NA18519, NA19119, NA19131, NA19138, NA18498, NA19130, HG01069, NA18874, NA19235, HG01176, NA19159, HG00637, HG01048, NA19209, NA18908, NA19200, HG01171, NA18934, NA18516, NA18910, NA18871, HG01073, HG01197, NA18856, NA18912, NA19257, NA18858, HG01107, HG01075, NA19108, HG01174, NA18501, NA19248, NA19223, NA19213, NA18487, HG00553
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663054
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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