A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658104



Internal ID9924209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127815696..127816181hg38UCSC Ensembl
chr11:127685591..127686076hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6511526, essv5954836, essv6558099, essv6302072, essv5675947, essv6367599, essv5529943, essv6485122, essv6154692, essv5585730, essv5791476, essv5425733, essv5551989, essv5866183, essv5577890, essv6093766, essv5794216, essv6401057, essv5966376, essv6469904, essv5733076, essv5860666, essv6052123, essv6013047, essv6487790, essv6286138, essv6489589, essv6443274, essv6081212, essv5782491, essv6324288, essv5435941, essv5644380, essv5691627, essv5624031, essv5780158, essv5572318, essv5492034, essv5988872, essv6232879, essv6554504, essv5822923, essv6136774
SamplesNA12717, HG00143, HG00142, NA10851, NA12843, NA11920, HG00257, HG00151, NA12045, NA19684, NA20808, HG00261, HG00330, NA20769, NA18618, HG00736, HG00247, NA20541, HG00281, NA12282, HG00277, HG00148, NA20775, HG00236, NA11994, NA20757, NA20515, HG00264, HG00313, HG00154, NA12489, NA20770, HG00373, NA12829, NA11893, HG00321, HG00157, NA12827, NA19652, HG00155, HG00353, NA20281, HG00312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658104
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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