A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6926123



Internal ID9688909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11605109..11605394hg38UCSC Ensembl
Outerchr3:11646583..11646868hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724895, esv2724915, esv2724914
Supporting Variants
SamplesSSM019
Known GenesVGLL4
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)essv6926123
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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