A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721259



Internal ID10304895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:189653174..189653467hg38UCSC Ensembl
Outerchr2:190517900..190518193hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950992, essv6968416, essv6880442, essv6973160
SamplesSSM028, SSM029, SSM025, SSM012
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)esv2721259
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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