A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658231



Internal ID9577650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70688979..70691578hg38UCSC Ensembl
chr10:72448735..72451334hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153e199
Supporting Variantsessv6282503, essv6478017, essv6016168, essv5905922, essv6570148, essv6104672, essv5963192, essv6126126, essv6035298, essv6446956, essv6440619, essv6478203, essv6394930, essv5778057, essv6179570, essv5511808, essv5675698, essv6249988, essv5969801, essv5403170, essv6151267, essv5567953, essv6310635, essv6406063, essv6439105, essv5644659, essv6079629, essv6578520, essv6240601, essv5718412, essv5703489, essv6033216, essv5760210, essv5442859, essv5505837, essv6558728, essv6436559, essv6482127, essv6158825, essv5455986, essv5900166, essv6487334, essv5426526, essv6495931, essv5718728, essv6537376, essv6011533, essv5500883, essv5660120, essv5967502, essv5831009, essv5821539, essv6060906, essv5952570, essv6248679, essv5518757, essv6134794, essv6165160, essv6260336, essv5482283, essv6533080, essv6064392, essv5894251, essv5595764, essv5745617, essv6092097, essv5924279, essv6308441, essv5753961, essv6308810, essv5619993, essv5679605, essv6153482, essv6515963, essv6341261, essv6272656, essv5646131, essv5543002, essv5529984, essv6147813, essv5949178, essv6084232, essv6380568, essv5523180, essv5846870, essv6000910, essv5652570, essv5426530, essv6356036, essv5812152, essv6050223, essv5933626, essv5511225, essv6073063, essv5972875, essv5542730, essv6318751, essv5612355, essv5934556, essv6070952, essv5482849, essv6436710, essv5501562, essv6284568, essv6260453, essv5653949, essv5615867, essv6358528, essv5848492, essv6321981, essv6109414, essv5571913, essv5827510, essv5521019
SamplesHG01060, NA20761, NA12717, NA11830, HG01173, HG00143, NA20543, NA11995, NA11829, HG00242, NA10851, NA11920, HG00257, NA20816, HG00640, HG00244, NA12751, NA12004, HG00150, NA20771, NA12750, NA12399, NA12155, NA07357, HG01522, NA18988, NA12341, HG00138, HG01070, HG01167, HG01168, HG00736, NA11992, HG00346, NA12287, HG00247, HG00243, HG00158, NA12761, HG00139, NA12275, HG01080, HG01067, HG00120, HG00106, NA06984, HG01519, HG00236, HG00156, HG00262, HG00232, HG01176, NA12889, HG00118, HG01198, NA12828, HG00253, HG00264, NA12748, NA11993, HG00108, HG00260, NA20818, NA11831, HG00137, NA20787, NA12342, HG01515, HG00263, NA20519, HG00250, NA11893, NA12249, HG01182, NA06989, HG01101, HG00157, HG00140, HG01334, HG00152, NA19225, HG00141, HG00246, HG00126, HG01107, HG01075, NA20765, NA18546, HG00254, HG01190, HG00265, HG00136, HG00638, NA12046, HG01174, NA20792, HG00237, NA20544, HG00116, HG01108, HG00256, HG00125, HG00111, HG00259, HG01055, NA20826, HG00343, HG00252, HG01082, NA07000, NA12154, HG01097, HG01061, HG01516
Known GenesADAMTS14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658231
Frequency
Sample Size1151
Observed Gain0
Observed Loss114
Observed Complex0
Frequencyn/a


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