A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714838



Internal ID9949123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84973789..84974241hg38UCSC Ensembl
Outerchr16:85007395..85007847hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971454, essv6682130, essv6703065, essv6788374, essv6780025, essv6803922, essv6792466, essv6928438, essv6920820
SamplesSSM039, SSM073, SSM028, SSM069, SSM017, SSM019, SSM067, SSM033, SSM070
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)esv2714838
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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