A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810696



Internal ID9867176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11905960..11908259hg38UCSC Ensembl
Outerchr3:11947434..11949733hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724924
Supporting Variants
SamplesSSM076
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)essv6810696
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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