A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671289



Internal ID9590708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30678099..30678505hg38UCSC Ensembl
Outerchr8:30677728..30678875hg38UCSC Ensembl
Innerchr8:30535616..30536022hg19UCSC Ensembl
Outerchr8:30535245..30536392hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6461680, essv6242194, essv5842180, essv5969114, essv6197958, essv5675089, essv5758428, essv5526994, essv5763953, essv6432692, essv6236756, essv5864212, essv5939631, essv5972848, essv5471076, essv6299642, essv6139167, essv6321243, essv6570736, essv5669102, essv5572616, essv5954323, essv6041748, essv6167083, essv5731105, essv6111029, essv5909343, essv6025666, essv6306502, essv5560921, essv6172645, essv5585022, essv5454190, essv6433945, essv6576206, essv6264175, essv6497921, essv6206474, essv5705120, essv6102807, essv5678341, essv6163283, essv6042391, essv6213287, essv6309063, essv5565560, essv5428265, essv6572443, essv5492618, essv5872061, essv5690283, essv6355285, essv5800736, essv5610063, essv5776738, essv5478070, essv5801956, essv5687827, essv5652934, essv5572411, essv5829496, essv5636319, essv6431458, essv6437562, essv6004364, essv6551649, essv5483136, essv5870744, essv5456726, essv5859589, essv6167955, essv6042489, essv6484564, essv6012616, essv5513178, essv6424669, essv5680443
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00596, HG00449, HG00707, HG00463, HG00657, HG00614, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00651, HG00557, HG00699, HG00479, HG00543, HG00556, HG00472, HG00421, HG00583, HG00692, HG00689, HG00533, HG00419, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00560, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704
Known GenesGSR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671289
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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