A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721963



Internal ID9956261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240961684..240962093hg38UCSC Ensembl
Outerchr2:241901101..241901510hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910565, essv6726329
SamplesSSM046, SSM015
Known GenesLOC200772
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)esv2721963
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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