A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721886



Internal ID9956184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239989058..239989247hg38UCSC Ensembl
Outerchr2:240928475..240928664hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938168, essv6922253
SamplesSSM022, SSM018
Known GenesNDUFA10
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)esv2721886
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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