A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672621



Internal ID9938726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:141005790..141006078hg38UCSC Ensembl
Outerchr4:141005749..141006151hg38UCSC Ensembl
Innerchr4:141926944..141927232hg19UCSC Ensembl
Outerchr4:141926903..141927305hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983774, essv5652497, essv6104172, essv6011686, essv6530836, essv6338851, essv6155610, essv6585435, essv5607043, essv6505532, essv6449762, essv6115721, essv5442552, essv6526465, essv6464495, essv5921972, essv6299981, essv6137818, essv5575707, essv5499540, essv5925226, essv6230396, essv6432408, essv6416396, essv5992427, essv5653099, essv5803914, essv6266693, essv6200243, essv5479693, essv5652780, essv6452896, essv5978726, essv5743536, essv5568040, essv5461272, essv5542815, essv6427100, essv5441527, essv5737544, essv6404800, essv5623176, essv6362667, essv6513165, essv6249982, essv6028005, essv6128370, essv6053601, essv5709704, essv6194760, essv5493271, essv6216114, essv5997774, essv6300850, essv6283533, essv5940697, essv5771661, essv5632968, essv5502028, essv6090393, essv5976374, essv6315446, essv5614202, essv5536276, essv6575885, essv5859429, essv5521704, essv6209508, essv6355623, essv6291433, essv5704079, essv6496500, essv6357911, essv5675196, essv6503888, essv6020711, essv6290161, essv5510180, essv5619939, essv6375994, essv5681176, essv5827614, essv6402205, essv6117426, essv6113274, essv5607132, essv6508077, essv5462991, essv5966149, essv5479664, essv6559721, essv6532267, essv5964610, essv5740837, essv6064114, essv5749756, essv6285264, essv5696061, essv6582888, essv5954498, essv6015844, essv6118772, essv6342061, essv5480598, essv6408243, essv6089251, essv5958468, essv5397138, essv6507042, essv6377762, essv5923848, essv6096687, essv5999999, essv6561796, essv5650728, essv6360856, essv5885485, essv5650990, essv6208605, essv5669657, essv5966373, essv5484909, essv5899166, essv6226870, essv6325803, essv5435293, essv5834881, essv6122229, essv5897372, essv6588481, essv6580722, essv6202255, essv5453568, essv6177646, essv5920547, essv5961337, essv6457073, essv6400039, essv6339733, essv5977674, essv5516712, essv6374796, essv5602464
SamplesNA19394, HG01060, NA19648, HG01173, NA19700, HG01521, HG00142, NA20508, NA11995, NA11829, NA19204, NA18861, NA18508, NA12414, NA18980, NA18507, NA11931, HG00306, NA12045, HG00244, HG00181, NA19359, NA18486, NA12751, HG00737, HG00150, NA20517, NA19920, NA18510, HG00337, NA12813, NA18967, NA19381, NA19171, NA18940, NA18550, NA19201, HG01351, NA19448, NA20774, NA19119, NA12891, NA18942, NA07347, HG00346, HG01354, NA12287, HG01083, HG00247, NA19138, HG00185, NA20291, NA18949, NA12761, HG00281, NA12282, NA12156, NA19137, NA11932, NA20340, NA19372, NA11994, NA19207, NA19385, NA19159, HG00160, HG01133, NA19209, NA18975, NA18867, HG00253, NA20755, NA19200, NA11831, NA10847, HG00137, HG00133, NA18951, NA19210, NA18934, NA20524, NA12003, NA19462, NA19152, HG01095, NA20536, NA19717, NA19663, NA18516, HG00344, HG00275, NA18871, HG01149, NA18976, NA20770, HG00551, NA18981, HG00324, NA11894, NA18856, NA18532, NA19099, NA19452, NA19225, NA18523, NA19160, NA18858, NA18945, NA18974, NA18953, HG00155, NA19440, NA19108, NA18517, NA20815, HG01357, NA19835, NA20778, NA19311, NA20544, HG01137, NA20516, NA12763, HG00125, NA18501, HG00111, NA06994, NA18971, NA19223, NA19726, NA19116, NA19780, NA19711, NA18972, NA20528, HG00274, HG01111, NA18968, NA07000, NA18522, HG00554, NA19153, NA18562
Known GenesRNF150
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672621
Frequency
Sample Size1151
Observed Gain0
Observed Loss143
Observed Complex0
Frequencyn/a


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