A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718773



Internal ID10302409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160779858..160780465hg38UCSC Ensembl
Outerchr1:160749648..160750255hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781000, essv6785114, essv6825111, essv6789269, essv6950674, essv6699724, essv6929188, essv6937799, essv6968059, essv6941919, essv6773557, essv6921856, essv6933422, essv6669141
SamplesSSM039, SSM023, SSM028, SSM021, SSM018, SSM069, SSM031, SSM066, SSM068, SSM020, SSM080, SSM022, SSM070, SSM025
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)esv2718773
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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