A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796823



Internal ID10197942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83025186..83025542hg38UCSC Ensembl
Outerchr17:80983062..80983418hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716592
Supporting Variants
SamplesSSM071
Known GenesB3GNTL1
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)essv6796823
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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