A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716446



Internal ID10300082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81416135..81416647hg38UCSC Ensembl
Outerchr17:79389935..79390447hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868059
SamplesSSM089
Known GenesBAHCC1
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)esv2716446
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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