A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670769



Internal ID9590188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76283602..76284547hg38UCSC Ensembl
chr17:74279683..74280628hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6364874, essv5890635, essv6186631, essv6421316, essv6545781, essv5780483, essv6076209, essv5987307, essv5483289, essv5966960, essv6056591, essv6381151, essv6595760, essv5984470, essv5855856, essv6484642, essv6330149, essv5616007, essv5523756, essv5594349, essv5514393, essv5689445, essv6176894, essv6554806, essv6258744, essv6084087, essv5481742, essv5457414, essv5738465, essv5451593, essv6382194, essv6518523, essv6386539, essv6354060, essv6190648, essv5926251, essv6488565, essv6561281, essv6060647, essv5457703, essv6548442, essv5738024, essv5606981, essv5442000, essv6332656, essv6113171, essv5804272, essv6254480, essv6344799, essv5478221, essv5652505, essv6076763, essv5829370, essv6470396, essv6103478, essv5586783, essv5854725, essv6308916, essv6240749, essv5970876, essv5435788, essv5920344, essv5655252, essv5953786, essv5786489, essv5650116, essv6132451, essv6502117, essv6494182, essv5936383, essv5577975, essv6336563, essv6155294, essv5685629, essv5644027, essv6247234, essv5693562, essv5637630, essv5993783, essv6386931, essv6004805, essv5782864, essv6461757, essv5754564, essv6039320, essv6110381, essv5891165, essv6238145, essv6206860, essv6301366, essv5772105, essv6507677, essv6292028, essv5830576, essv6085711, essv6489184, essv5802473, essv6106413, essv6266218, essv5533606, essv5721067, essv6427414, essv6246515, essv5957042, essv5562462, essv6557896, essv5530455, essv5906459, essv6569359, essv6566969, essv6325352, essv5822569, essv5801384, essv6011258, essv5809311, essv5741236, essv6566202, essv5909382, essv6195069, essv5593577, essv6325845, essv6169654, essv6062532, essv6141721, essv5815135, essv5401474, essv5526157, essv6455821, essv6184558, essv6285395, essv5476336, essv5702169, essv5581382, essv6451770, essv6268265, essv6249312, essv6386105, essv6374354, essv6373282, essv6277393, essv6061294, essv5866667, essv5796055, essv6029455, essv6110362, essv6312584, essv5397889, essv6470489, essv6413240, essv6245155, essv6356347, essv5704576, essv5468220, essv6315535, essv6496690, essv5692156, essv6587166, essv5417943, essv6236922, essv5596681, essv5417156, essv6269841, essv5670853
SamplesNA20281, NA19137, NA18964, NA19445, NA19625, HG01359, NA12249, NA19712, NA19321, NA18871, NA19819, NA19404, NA18523, NA19437, NA18874, HG00112, NA18501, NA19783, NA19401, HG00736, NA19311, NA19469, NA19072, NA19455, HG01098, NA19435, NA19319, NA19430, NA18516, NA19317, NA19359, NA19334, HG00189, NA19331, NA19453, HG01082, NA19451, HG01488, HG00475, NA19338, NA19449, NA20342, NA19920, HG00270, NA19461, NA19379, NA19834, HG00651, NA19004, NA19257, NA19701, NA19355, NA18557, NA19472, NA19467, NA18873, NA19147, NA18596, NA19438, NA18868, NA20340, HG00244, NA19463, NA19914, NA19383, NA19982, NA18934, NA20356, HG00472, NA19390, NA12004, NA19917, NA19443, NA19107, NA19444, NA18856, NA20127, NA19398, NA19429, NA19440, NA19908, HG00533, NA19985, NA19256, NA19835, NA19457, NA19700, NA19316, NA20341, NA19324, NA19190, NA12006, HG00306, HG00436, NA19247, NA19360, NA19395, NA19189, NA19372, NA20291, NA19374, NA19703, NA19375, NA19393, NA20348, NA19373, NA18486, NA19102, HG00263, NA18510, NA19713, NA18941, NA19664, NA19901, HG01069, NA19704, NA18487, NA18858, HG00277, NA19347, NA19909, NA19328, NA18910, NA19382, HG01383, NA19318, NA19711, NA19789, NA19376, NA18909, NA19391, NA20276, NA20799, NA19394, NA19403, NA19116, NA19431, NA20289, NA20287, NA19434, NA19818, NA20509, HG01390, NA19452, NA20317, NA19327, NA19399, NA18571, NA19198, NA19916, NA19470, NA19130, NA19350, NA19381, NA19473, NA19448, NA19087, NA19385, NA19456, NA19466, NA18980, HG01354, NA19439
Known GenesQRICH2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670769
Frequency
Sample Size1151
Observed Gain0
Observed Loss163
Observed Complex0
Frequencyn/a


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