A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877193



Internal ID9926269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43360686..43362863hg38UCSC Ensembl
Outerchr17:41438054..41440231hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382178
hg192178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715955, esv2715954
Supporting Variants
SamplesSSM092
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)essv6877193
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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