A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720014



Internal ID10303650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46206612..46206796hg38UCSC Ensembl
Outerchr2:46433751..46433935hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853688, essv6864327, essv6859530, essv6669462, essv6906398, essv6955272, essv6718461, essv6962032, essv6847498, essv6816934, essv6972894
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM044, SSM014, SSM086, SSM078
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)esv2720014
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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