A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737564



Internal ID10321200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127407602..127408523hg38UCSC Ensembl
Outerchr8:128419847..128420768hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38922
hg19922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672204, essv6677255, essv6795425, essv6934263, essv6964846, essv6894009, essv6766976, essv6834402, essv6861699, essv6760572, essv6763031, essv6958248, essv6734819, essv6897233, essv6908308, essv6746420, essv6819024, essv6838080, essv6976078, essv6935468, essv6716206
SamplesSSM008, SSM083, SSM071, SSM027, SSM088, SSM021, SSM061, SSM029, SSM062, SSM026, SSM032, SSM003, SSM031, SSM014, SSM082, SSM078, SSM055, SSM099, SSM043, SSM049, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2737564
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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