A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721336



Internal ID10304972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:196749891..196750229hg38UCSC Ensembl
Outerchr2:197614615..197614953hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672476, essv6946938, essv6762104, essv6781352, essv6813544, essv6742481, essv6704233, essv6698442, essv6844248, essv6722417, essv6836608
SamplesSSM083, SSM024, SSM045, SSM062, SSM006, SSM085, SSM068, SSM040, SSM053, SSM005, SSM077
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)esv2721336
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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