A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6926177



Internal ID10035643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:76438985..76439614hg38UCSC Ensembl
Outerchr3:76488136..76488765hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725528
Supporting Variants
SamplesSSM019
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)essv6926177
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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