A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715967



Internal ID10299603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44982008..44982720hg38UCSC Ensembl
Outerchr17:43059376..43060088hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665837, essv6925005, essv6913313
SamplesSSM018, SSM029, SSM015
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)esv2715967
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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