A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941116



Internal ID9702348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73373869..73374684hg38UCSC Ensembl
Outerchr17:71370008..71370823hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716195
Supporting Variants
SamplesSSM022
Known GenesSDK2
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)essv6941116
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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