A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780162



Internal ID9838940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63884120..63898919hg38UCSC Ensembl
Outerchr17:61961480..61976279hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3814800
hg1914800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716100, esv2716099
Supporting Variants
SamplesSSM067
Known GenesCSH1
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)essv6780162
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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