A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719568



Internal ID10303204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5705927..5706494hg38UCSC Ensembl
Outerchr2:5846059..5846626hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793582, essv6781157, essv6902779, essv6710842, essv6898811
SamplesSSM100, SSM071, SSM013, SSM042, SSM068
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)esv2719568
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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