A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669419



Internal ID9935524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79929717..79931723hg38UCSC Ensembl
Outerchr17:79929346..79932293hg38UCSC Ensembl
Innerchr17:77903516..77905522hg19UCSC Ensembl
Outerchr17:77903145..77906092hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5969403, essv6285116, essv6517377, essv5946771, essv6330114, essv6448861, essv5943384, essv6488671, essv6514192, essv6444779, essv6096791, essv6071901, essv5903812, essv5801903, essv5613865, essv6301058, essv5739208, essv5843871, essv5508814, essv5595442, essv6418038, essv5541665, essv6360592, essv6212873, essv6237518, essv5886519, essv6048135, essv6502985, essv6196763, essv5602252, essv6326150, essv6494583, essv6332932, essv5449438, essv6353216, essv6015305, essv5855314, essv5727390, essv6347365, essv5955674, essv6188211, essv5920204, essv5401061, essv5628094, essv5876932, essv5931406, essv6452349, essv5783946, essv5865809, essv6090002, essv5966015, essv5621476, essv6163048, essv6051007, essv6532018, essv6322422, essv6505605, essv6438612, essv5989073, essv5750247, essv6176715, essv5700808, essv6439440, essv6292237, essv6466084, essv5938731, essv6434953, essv6211529, essv5438983, essv5863274, essv6021843, essv6360967, essv5889954, essv5962007, essv5754242, essv6136298, essv6395936, essv5824633, essv6238320, essv6256794, essv5556370, essv5805877, essv5900602, essv6367219, essv6282106, essv5545091, essv6280158, essv6201309, essv6530584, essv5746412, essv6519545, essv5443574, essv6109839, essv5409414, essv6238986, essv6141428, essv5723665, essv6093993, essv6547189, essv6359316, essv5586644, essv6478123, essv5498677, essv6131273, essv5553392, essv5619334, essv6458552, essv6461474, essv5412109, essv6374059, essv5888491, essv5480279, essv6282196, essv6534768, essv5609981, essv5546917, essv5943892, essv5463656, essv6384901, essv5973104, essv5721824, essv5989788, essv6233435, essv5503106, essv5549812, essv6376712, essv6189152, essv6561697, essv6549150, essv5567438, essv6036084, essv6260899, essv6257629, essv6337446, essv5898811, essv5426463, essv5809328, essv5958093, essv5530834, essv5680123, essv6598356
SamplesHG00593, HG00626, HG00403, HG00114, HG00650, HG00542, HG00442, HG00536, HG00231, HG00608, HG00249, HG00671, HG00242, HG00559, HG00524, HG00100, HG00257, HG00244, HG00699, HG00115, HG00449, HG00150, HG00654, HG00261, HG00693, HG00663, HG00138, HG00589, HG00251, HG00501, HG00122, HG00702, HG00689, HG00448, HG00610, HG00247, HG00537, HG00243, HG00158, HG00512, HG00139, HG00120, HG00683, HG00148, HG00106, HG00236, HG00156, HG00262, HG00232, HG00534, HG00422, HG00705, HG00427, HG00118, HG00159, HG00530, HG00419, HG00253, HG00464, HG00108, HG00260, HG00543, HG00137, HG00133, HG00154, HG00629, HG00443, HG00596, HG00557, HG00245, HG00428, HG00653, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00263, HG00619, HG00708, HG00692, HG00651, HG00250, HG00690, HG00531, HG00479, HG00684, HG00117, HG00613, HG00525, HG00157, HG00140, HG01334, HG00146, HG00704, HG00463, HG00141, HG00246, HG00126, HG00258, HG00476, HG00124, HG00155, HG00254, HG00119, HG00625, HG00580, HG00136, HG00473, HG00607, HG00237, HG00116, HG00256, HG00662, HG00418, HG00620, HG00125, HG00707, HG00672, HG00614, HG00111, HG00513, HG00578, HG00478, HG00259, HG00421, HG00656, HG00123, HG00112, HG00698, HG00131, HG00252, HG00595, HG00472, HG00628, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669419
Frequency
Sample Size1151
Observed Gain0
Observed Loss141
Observed Complex0
Frequencyn/a


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