A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731473



Internal ID9965791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3663404..3663994hg38UCSC Ensembl
Outerchr10:3705596..3706186hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6768224, essv6740751, essv6681252, essv6757971, essv6783173, essv6755252, essv6952853, essv6856626, essv6939959, essv6915825, essv6895909, essv6876390
SamplesSSM059, SSM064, SSM087, SSM058, SSM092, SSM033, SSM068, SSM016, SSM022, SSM025, SSM052, 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)esv2731473
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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