A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835540



Internal ID9888595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43360788..43362866hg38UCSC Ensembl
Outerchr17:41438156..41440234hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382079
hg192079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715955, esv2715954
Supporting Variants
SamplesSSM082
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)essv6835540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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