A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901958



Internal ID10011809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63863730..63887367hg38UCSC Ensembl
Outerchr17:61941090..61964727hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3823638
hg1923638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716098
Supporting Variants
SamplesSSM012
Known GenesCSH2, GH2, TCAM1P
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)essv6901958
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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