A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675466



Internal ID9941571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31605440..31605752hg38UCSC Ensembl
chr17:29932459..29932771hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6145148, essv5469574, essv5844538, essv5443990, essv6281790, essv6358392, essv6109324, essv6262739, essv5627536, essv5577267, essv5487776, essv5819622, essv6579721, essv6450515, essv5950707, essv5906836, essv5941285, essv6367929, essv5984403, essv5503619, essv5528079, essv6279339, essv5822541, essv6267753, essv5824340, essv6325497, essv5895938, essv6064101, essv6109315, essv5941940, essv6517650, essv6015552, essv5715113, essv6539421, essv5687306, essv6209123, essv5444600, essv6416675, essv6192972, essv6566871, essv5542084, essv5847279, essv5890627, essv6265352, essv5826587, essv6205575, essv5678959, essv6121843, essv6361541, essv5410792, essv5718134, essv6099718, essv6061720, essv6395891, essv6239011, essv5467082, essv5850547, essv5491511, essv6307161, essv6253318, essv5497041, essv5441286, essv6440257, essv5757021, essv6274841, essv6251465, essv5955489, essv5749586, essv6387491, essv5647868, essv5950877, essv5420069, essv5790563, essv5483646, essv5399713, essv5786735, essv6197921, essv5949110, essv6222530, essv5880246, essv5654484, essv6008361, essv5415345, essv6069953, essv6131740, essv5816515, essv6092996, essv6270400, essv6101304, essv5422485, essv6147504, essv6232000, essv6043873, essv6265831, essv5651805, essv5448260, essv5510765, essv6287201, essv5998593, essv5619086, essv6309896, essv5547663, essv6203293, essv5406453, essv5731780, essv6285547
SamplesNA19394, NA18502, NA19700, NA19703, NA11995, NA19204, NA18861, NA19332, NA18507, HG01188, NA12045, NA19359, NA20294, NA19355, NA18959, NA19098, NA19920, NA18510, NA12813, NA18967, NA07346, NA19374, NA19396, NA19373, NA19171, NA19201, NA19382, NA19723, HG01492, NA19131, NA18916, NA19313, NA19138, NA19384, NA19404, HG01069, NA12156, NA18868, NA19207, NA19385, NA19159, NA19901, NA19239, NA19209, NA18975, NA20127, NA19200, HG01124, NA19210, NA12489, NA19462, NA18956, NA19455, NA18516, NA20126, NA18976, NA18981, NA19449, NA18499, NA18856, NA18912, NA19099, NA19452, NA19225, NA18523, NA19469, NA19160, NA19395, NA18945, NA18974, NA18953, HG00124, NA19440, NA12716, NA19390, NA18909, HG01190, NA18952, NA19712, NA19435, NA19331, NA19240, NA19144, NA19835, NA19439, NA19311, HG01108, NA18501, NA06994, NA18971, NA19438, NA19223, NA19093, NA19102, NA18873, NA19116, NA19213, NA18972, NA19129, NA18488, NA18968, NA12154, NA18487, NA19153, NA19431, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675466
Frequency
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0
Frequencyn/a


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