A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621796



Internal ID6661972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127870832..127871776hg38UCSC Ensembl
Innerchr9:127870834..127871774hg38UCSC Ensembl
Outerchr9:127870830..127871778hg38UCSC Ensembl
chr9:130633111..130634055hg19UCSC Ensembl
Innerchr9:130633113..130634053hg19UCSC Ensembl
Outerchr9:130633109..130634057hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13622702, essv13622727, essv13622689, essv13622730, essv13622715, essv13622710, essv13622716, essv13622740, essv13622728, essv13622696, essv13622643, essv13622711, essv13622685, essv13622726, essv13622717, essv13622649, essv13622693, essv13622675, essv13622679, essv13622670, essv13622680, essv13622678, essv13622723, essv13622718, essv13622697, essv13622743, essv13622687, essv13622668, essv13622725, essv13622721, essv13622706, essv13622722, essv13622658, essv13622652, essv13622719, essv13622655, essv13622701, essv13622691, essv13622746, essv13622733, essv13622672, essv13622645, essv13622676, essv13622735, essv13622642, essv13622692, essv13622662, essv13622682, essv13622647, essv13622664, essv13622690, essv13622665, essv13622663, essv13622686, essv13622656, essv13622650, essv13622745, essv13622729, essv13622742, essv13622646, essv13622704, essv13622736, essv13622709, essv13622720, essv13622712, essv13622660, essv13622648, essv13622739, essv13622644, essv13622734, essv13622708, essv13622661, essv13622698, essv13622688, essv13622703, essv13622738, essv13622673, essv13622741, essv13622724, essv13622669, essv13622657, essv13622681, essv13622653, essv13622732, essv13622671, essv13622694, essv13622674, essv13622651, essv13622700, essv13622654, essv13622737, essv13622731, essv13622744, essv13622705, essv13622713, essv13622677, essv13622695, essv13622666, essv13622707, essv13622659, essv13622683, essv13622714, essv13622699, essv13622684, essv13622667
SamplesHG03514, HG02339, HG02890, NA19141, HG03484, NA19909, NA19204, NA18861, HG01860, HG02702, NA19704, NA18881, NA20752, HG02836, NA18877, HG03280, NA18504, HG02888, NA19190, NA20359, NA18563, HG03133, HG01506, NA19319, NA19201, HG02811, HG03135, HG01167, NA19119, NA18923, HG02595, HG02756, HG02645, HG03224, HG02816, NA19130, HG02489, NA19922, HG02561, HG02315, HG03212, HG03045, NA19385, NA19471, NA19317, HG02471, HG02545, HG03073, NA19025, NA20127, NA18867, NA20515, NA20318, HG02977, NA19210, HG03160, HG03644, HG03088, HG02582, HG02678, NA19984, HG02511, NA18871, HG03081, HG02014, HG02968, HG02878, HG03294, NA19114, HG02817, HG01101, HG01334, NA18523, HG02586, HG02722, HG03567, HG02255, HG03240, NA19256, HG02799, HG03539, HG02308, HG02721, NA19037, HG02837, HG02611, NA19324, NA19143, NA18501, HG03432, HG03097, HG03025, HG02646, HG01085, HG03258, HG02239, NA19116, NA19146, NA18488, HG02465, HG03072, HG02805, HG02006, HG00553, HG02760
Known GenesAK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621796
Frequency
Sample Size2504
Observed Gain0
Observed Loss105
Observed Complex0
Frequencyn/a


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