A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721279



Internal ID3271775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:191054030..191054195hg38UCSC Ensembl
Outerchr2:191918756..191918921hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707650, essv6906563, essv6853901
SamplesSSM041, SSM087, SSM014
Known GenesSTAT4
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)esv2721279
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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