A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671481



Internal ID9937586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:31372226..31376099hg38UCSC Ensembl
chr11:31393773..31397646hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383874
hg193874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv197e199
Supporting Variantsessv6061004, essv6419793, essv5897289, essv5900727, essv6228695, essv5806295, essv6447523, essv6345772, essv6188868, essv6266859, essv6154735, essv6135484, essv6033527, essv6149290, essv6251483, essv5779875, essv6567647, essv6265156, essv5999978, essv6380735, essv6291129, essv6018888, essv6543483, essv5967674, essv5885465, essv6403810, essv5579193, essv6044338, essv6369155, essv6383531, essv5872165, essv5617873, essv5917799, essv5775048, essv6310351, essv6230969, essv6021393, essv6397449, essv5671283, essv5572460, essv6102243, essv5529413, essv5745562, essv6061096, essv5862648, essv5591501, essv5945119, essv5951212, essv5926802, essv6022792, essv5461758, essv5475635, essv5657317, essv6043737, essv6356193, essv5868357, essv5837892, essv5470875, essv5840644, essv5878300, essv6415497, essv5985370, essv6454451, essv6448979, essv6007787, essv5930577, essv6202732, essv6260314, essv6567177, essv5918970, essv5903521, essv5428215, essv5811681, essv6451294, essv6075876, essv6376723, essv5670744, essv6492826, essv6241562, essv5831753, essv5909859, essv5438876, essv5948337, essv6143659, essv6191457, essv6501227, essv5883971, essv5660457, essv6150801, essv6543876, essv5578825, essv6550175, essv6240098, essv6138194, essv6511999, essv5820282, essv5820708
SamplesNA20588, NA20761, NA19648, NA20529, HG01356, NA20543, NA20766, NA20508, HG01359, NA20783, HG01389, HG01374, NA20816, NA20752, NA20802, NA20532, NA20805, NA19684, NA20806, HG01140, NA19746, NA19660, NA20796, NA20798, NA19678, HG01488, NA20774, NA20795, HG01354, NA20768, NA19681, NA20541, HG01134, HG01455, NA20518, HG01495, HG01440, NA19725, NA20757, HG01550, NA20515, NA20755, NA20818, HG01353, HG01136, NA20535, NA20800, HG01360, NA20787, HG01384, NA20505, NA20809, NA20536, NA19717, HG01149, HG01390, NA20525, NA20538, NA19750, HG01497, NA19761, NA20828, NA20542, NA19675, NA20765, HG01148, NA20522, NA19652, NA20801, NA19749, NA20815, NA19732, HG01253, NA20804, NA19773, NA20785, HG01357, NA20790, NA20530, NA20527, NA20778, HG01494, NA19679, NA20504, HG01113, NA20544, HG01137, NA20797, HG01489, NA19785, NA20582, NA19716, NA20826, NA20528, HG01378, NA20585, HG01437
Known GenesDNAJC24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671481
Frequency
Sample Size1151
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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