A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669383



Internal ID9588802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150271538..150271554hg38UCSC Ensembl
Outerchr4:150271381..150271707hg38UCSC Ensembl
Innerchr4:151192690..151192706hg19UCSC Ensembl
Outerchr4:151192533..151192859hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6283991, essv6186377, essv6570716, essv6361692, essv5719509, essv6517654, essv5922702, essv6335835, essv6154808, essv6320691, essv5756332, essv5542774, essv6558628, essv5877647, essv6500785, essv5676042, essv6323242, essv6242002, essv6470519, essv6446125, essv6162120, essv5644253, essv6301020, essv6170940, essv6489585, essv6295959, essv5898604, essv5700435, essv6427640, essv5591830, essv5433332, essv6084481, essv5551522, essv5855795, essv6522916, essv5444758, essv6363256, essv6487635, essv5865334, essv5548139, essv5493557, essv6135125, essv6472558, essv6513960, essv5593639, essv5438662, essv5649976, essv5727155, essv6249342, essv5712061, essv5708336, essv6136397, essv6320922, essv6170452, essv5860114, essv6591361, essv5766689, essv6470044, essv5557405, essv6001662, essv5709690, essv5556153, essv5991615, essv6515754, essv5870992, essv5487314, essv6100614, essv6098778, essv5728052, essv5475906, essv6389407, essv5830469, essv6435568, essv5692494, essv5534238, essv5544715, essv6459802, essv6380970, essv6163457, essv5678020, essv6473856, essv5478271, essv5930447, essv5688356, essv6572745, essv5974435, essv5516614, essv5606660, essv5573882, essv5509755, essv5702619, essv5595772, essv6018440, essv6446445, essv6369176, essv5706961
SamplesHG00323, HG01441, NA12827, NA18621, HG00309, NA19436, HG00536, HG01440, NA07347, HG00619, HG00418, NA19404, HG01083, NA19093, HG00449, NA11918, HG00310, HG00707, HG01389, HG00463, HG00657, NA19359, HG01051, HG01082, HG01174, HG00326, HG01350, HG00651, HG00280, HG00335, HG00557, HG00331, NA19355, NA20322, NA18557, NA20755, NA19428, NA19383, HG00140, HG00638, HG01048, HG01061, HG00692, NA19396, HG01124, NA19397, HG00315, NA11933, NA18637, HG00276, HG00237, HG00343, NA20341, HG00662, NA19360, NA19313, NA19377, HG00108, NA19372, HG00653, NA19375, NA19393, NA20348, NA19384, HG00325, NA18498, NA18486, NA18510, HG00260, HG01073, NA18558, HG00273, HG01170, HG01069, HG00277, HG01351, HG01060, NA19138, NA19376, NA19394, NA19116, HG00608, NA18548, HG00285, NA18917, HG00656, NA18499, NA19371, HG01108, HG01125, HG00320, HG01377, HG00702, NA19385, HG00278, HG01067
Known GenesLRBA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669383
Frequency
Sample Size1151
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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