A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663985



Internal ID9583404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140842552..140859346hg38UCSC Ensembl
chr5:140222137..140238931hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3816795
hg1916795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1043e199
Supporting Variantsessv5579631, essv6350334, essv6427991, essv5790457, essv6441786, essv6235718, essv6034425, essv6302866, essv5716783, essv6005432, essv5458688, essv6596342, essv5637001, essv6262067, essv5962622, essv5421170, essv6518465, essv5869867, essv5637689, essv5395919, essv6389313, essv6247521, essv5524194, essv6576125, essv6476559, essv6059853, essv6230846, essv5460228, essv6448088, essv6461184, essv5980523, essv6323759, essv6263260, essv5808002, essv6494819, essv6467566, essv6479589, essv5780455, essv6270114, essv6322402, essv5985682, essv5519357, essv5907225, essv6269122, essv6400508, essv6170433, essv5641945, essv6035280, essv5450357, essv5943534, essv6237079, essv6357399, essv6437529, essv5593011, essv6157234, essv5446699, essv6579063, essv6528563, essv5983581, essv6098566, essv6087836, essv6083242, essv5676394, essv6003650, essv5792032, essv5838285, essv5764638, essv5819505, essv5433257, essv6366236, essv5912820, essv6524454, essv6353580, essv5702926, essv5961182, essv5772056, essv6506381, essv6049235, essv5988445, essv6385946, essv6428220, essv5691294, essv6048434, essv6459822, essv6089564, essv5513259, essv6415705, essv5730321, essv5464500, essv5640792, essv5578797, essv6412615, essv5957384, essv5967857, essv6021895, essv6555661
SamplesNA19394, NA18502, HG01356, HG01462, NA20766, HG00249, NA19466, NA18861, NA10851, HG00187, HG00315, NA20813, HG00367, NA19359, HG01465, NA19777, HG01140, NA19396, NA19381, HG01350, NA19005, HG01070, HG00272, NA19315, HG01177, NA12287, HG00247, HG00369, HG00311, HG00139, NA12282, NA19720, HG00335, NA18560, NA19235, NA19172, HG00160, NA18990, NA18520, NA18557, NA19445, HG00253, HG00313, HG01136, NA12489, HG00268, HG00245, HG00190, NA19327, HG00320, HG00344, NA18637, HG01498, HG00708, NA11919, NA12829, NA11894, NA19453, HG00117, HG01101, NA12827, NA19099, NA19059, NA19469, NA19318, NA12778, NA20296, HG00258, NA12716, NA19834, HG00357, HG00308, NA20778, HG01494, NA19439, NA20504, HG01137, NA19083, NA20281, NA07037, NA18610, NA12347, HG00111, HG00329, NA12749, HG01055, NA18609, HG00310, NA20786, NA20528, HG00377, NA20503, NA20502, NA19463, NA18511, NA19065
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663985
Frequency
Sample Size1151
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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