A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663438



Internal ID9929543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39374547..39529503hg38UCSC Ensembl
Outerchr8:39374076..39529923hg38UCSC Ensembl
Innerchr8:39232066..39387022hg19UCSC Ensembl
Outerchr8:39231595..39387442hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155848
hg19155848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1282e199
Supporting Variantsessv6280377, essv5634559, essv6495813, essv6210033, essv6199707, essv6225858, essv5541890, essv5739229, essv5709384, essv5655232, essv6263089, essv5609805, essv5562440, essv6434234, essv6078539, essv5399286, essv6007266, essv6323075, essv6484503, essv6272079, essv5430554, essv6088778, essv6558481, essv6329938, essv5846498, essv6540204, essv5505072, essv5686740, essv6047956, essv5600984, essv5962811, essv5651714, essv5565905, essv5834522, essv6385840, essv6367311, essv6453949, essv5692106, essv5534484, essv6553037, essv5776887, essv5472670, essv5598743, essv6040617, essv6025900, essv5561775, essv6210612, essv5850316, essv5563413, essv6408520, essv6380705, essv6419724, essv6216550, essv5537414, essv6084667, essv6393132, essv6572940, essv6288835, essv5799133, essv6032291, essv6129708, essv6112723, essv6376056, essv6424090, essv6165951, essv5519757, essv5499202, essv6352593, essv5698004, essv6448551, essv6132071, essv6072793, essv6329126, essv6039896, essv5496991, essv5518772, essv5517373, essv6416665, essv6270531, essv5801477, essv5720771, essv6088342, essv6020761, essv6299149, essv6344817, essv5480302, essv6204151, essv5589863, essv6473179, essv6320219, essv5733226, essv6586833, essv5635179, essv6195687, essv5818445, essv6595300, essv6246393, essv6212611, essv6126848, essv5662645, essv5790259, essv5402981, essv6421664, essv6170385, essv6255705, essv5695659, essv6110151, essv6006237, essv5560032, essv5842354, essv6393217, essv6429679, essv6277257, essv5942846, essv5588159, essv5552623, essv6146238, essv6490210, essv5565378, essv6524892, essv6258360, essv6194078, essv6006189, essv6501403, essv6405211, essv5644118, essv5496280, essv5815267, essv5448515, essv6358680, essv5531807, essv5840891, essv5444487, essv5437243, essv6440716, essv6363992, essv5667750, essv5894950, essv5982651, essv5968403, essv6014910, essv5546700, essv6286959, essv6286153, essv6151484, essv5645554, essv6489695, essv5851912, essv6085290, essv5851173, essv5653793, essv5849576, essv6545575, essv6100118, essv6493692, essv5467241, essv5759793, essv5432692, essv5975900, essv5716995, essv6172585, essv6097642, essv5748548, essv6163719, essv5705654, essv5808903, essv6139543, essv5715030, essv5975152, essv6347996, essv5517926, essv6031232, essv6164945, essv6105727, essv5953239, essv5966631, essv6467484, essv6302403, essv6536747, essv6506703, essv6131004, essv5741963, essv6372829, essv5720524, essv6369148, essv5538660, essv5878739
SamplesNA20509, HG00096, NA20588, HG00189, HG00114, NA20761, HG01356, HG00143, NA20543, NA20766, NA20508, HG00361, HG00187, NA20783, HG00100, NA20514, HG00257, HG01389, HG00306, HG00151, HG00233, NA20512, HG00318, HG00181, HG01465, NA20805, HG00115, NA20808, HG00177, NA20517, HG01461, NA20771, NA20806, HG01140, HG00337, HG00327, HG00271, NA20537, HG00138, HG00127, HG01366, HG00251, HG00122, NA20589, HG01351, NA20586, HG00173, NA20769, HG01492, HG01354, NA20768, NA20540, HG00247, HG00369, HG00270, HG01365, NA20513, HG00185, HG00243, HG00158, NA20541, HG01134, HG00281, NA20759, NA20518, HG00148, NA20819, NA20775, NA20812, HG01495, HG00325, HG00232, HG01440, HG00182, NA20811, HG00160, HG00338, HG00159, HG00178, NA20757, NA20533, HG00323, HG01550, HG00253, NA20515, NA20755, HG00108, HG00260, NA20818, HG01353, HG00313, HG00137, HG00133, HG00188, HG00154, HG00149, NA20800, HG01360, HG00268, HG00266, HG00282, NA20787, HG01384, HG00328, HG00245, NA20505, NA20521, NA20810, NA20760, NA20536, HG00320, NA20506, NA20519, NA20770, HG00239, NA20525, HG00324, HG00273, HG00373, NA20581, NA20538, HG00117, HG00140, HG01497, HG01334, HG00276, HG00146, NA20828, HG00141, HG00246, HG00126, NA20542, NA20534, NA20765, NA20526, HG01148, HG00258, NA20522, HG00155, NA20801, HG00254, HG00336, HG00375, HG01253, HG00136, NA20804, HG00278, HG01357, NA20790, NA20530, NA20527, HG01375, NA20792, NA20778, HG01494, HG01113, NA20544, HG01137, NA20516, NA20803, NA20797, HG00256, HG01342, HG00125, HG00111, HG00312, HG00259, NA20582, HG00329, HG00267, HG01254, HG00174, HG00123, HG00310, HG00186, HG00112, NA20807, HG00131, NA20826, HG01251, HG00377, HG01377, HG01378, HG01125, HG00345, NA20585, HG01437
Known GenesADAM3A, ADAM5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663438
Frequency
Sample Size1151
Observed Gain0
Observed Loss187
Observed Complex0
Frequencyn/a


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