A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659656



Internal ID9579075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:67677877..67761760hg38UCSC Ensembl
Outerchr9:67677506..67762130hg38UCSC Ensembl
Innerchr9:46343716..46426122hg19UCSC Ensembl
Outerchr9:46343345..46426492hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3884625
hg1983148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1348e199
Supporting Variantsessv6401404, essv5461175, essv5764708, essv6208345, essv5544777, essv6382808, essv5404685, essv6521799, essv5868469, essv6087898, essv5419702, essv5766494, essv5963581, essv5972972, essv6266089, essv5497977, essv6422790, essv5911901, essv5885360, essv5827332, essv6446398, essv5903832, essv5488272, essv6021536, essv5633471, essv6113588, essv6354718, essv6328324, essv6455791, essv6330137, essv6379528, essv5451307, essv6130738, essv5454981, essv6485446, essv5515496, essv5887877, essv6089132, essv6309103, essv6398744, essv5443217, essv5754381, essv5659693, essv5777169, essv5440149, essv5796067, essv6533338, essv6439915, essv5579121, essv5843101, essv5943121, essv6142817, essv5601454, essv5629697, essv5665288, essv5494947, essv5432846, essv5876338
SamplesHG00189, HG00361, HG00187, HG00315, HG00367, HG00318, HG00179, HG00177, HG00337, HG00327, HG00173, HG00330, HG00346, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00325, HG00309, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00320, HG00275, HG00324, HG00284, HG00273, HG00373, HG00321, HG00285, HG00353, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00267, HG00174, HG00343, HG00274, HG00171, HG00345, HG00180
Known GenesFAM27E1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659656
Frequency
Sample Size1151
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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