A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6951008



Internal ID10060362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206374381..206375143hg38UCSC Ensembl
Outerchr2:207239105..207239867hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721396, esv2721394
Supporting Variants
SamplesSSM025
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)essv6951008
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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