A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724898



Internal ID9959200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10507646..10508432hg38UCSC Ensembl
Outerchr3:10549330..10550116hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789695, essv6667149, essv6962392, essv6798006, essv6669804, essv6693353, essv6942399
SamplesSSM027, SSM023, SSM031, SSM072, SSM037, SSM070, SSM030
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)esv2724898
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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