A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867995



Internal ID10264677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41233663..41250753hg38UCSC Ensembl
Outerchr17:39389915..39407005hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817091
hg1917091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715924
Supporting Variants
SamplesSSM089
Known GenesKRTAP9-4, KRTAP9-8
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)essv6867995
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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