A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713634



Internal ID9779358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68035289..68035791hg38UCSC Ensembl
Outerchr17:66031405..66031907hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716136, esv2716138
Supporting Variants
SamplesSSM042
Known GenesKPNA2
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)essv6713634
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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