A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721012



Internal ID9955308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:156544327..156544673hg38UCSC Ensembl
Outerchr2:157400839..157401185hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726250, essv6781315, essv6785431, essv6869026
SamplesSSM046, SSM090, SSM069, SSM068
Known GenesGPD2
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)esv2721012
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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