A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721275



Internal ID10304911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190815859..190816504hg38UCSC Ensembl
Outerchr2:191680585..191681230hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739203, essv6880487, essv6864500, essv6722409, essv6853900, essv6950996, essv6875040, essv6933768, essv6669678, essv6817106, essv6847715, essv6955494
SamplesSSM045, SSM087, SSM092, SSM021, SSM026, SSM089, SSM031, SSM086, SSM078, SSM025, SSM052, 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)esv2721275
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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