A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761447



Internal ID9821898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43305147..43322420hg38UCSC Ensembl
Outerchr17:41382496..41399783hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3817274
hg1917288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715953
Supporting Variants
SamplesSSM061
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)essv6761447
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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