A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720021



Internal ID10303657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47084331..47084841hg38UCSC Ensembl
Outerchr2:47311470..47311980hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714555, essv6962034, essv6751309, essv6718462, essv6937994, essv6832859, essv6669464, essv6821480, essv6699948, essv6693122, essv6781208, essv6825312, essv6777240, essv6707542, essv6797781
SamplesSSM008, SSM027, SSM079, SSM039, SSM041, SSM031, SSM067, SSM044, SSM068, SSM072, SSM082, SSM080, SSM037, SSM022, SSM043
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)esv2720021
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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