A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721277



Internal ID10304913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190816083..190816147hg38UCSC Ensembl
Outerchr2:191680809..191680873hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853900, essv6669678, essv6847715, essv6955494
SamplesSSM087, SSM026, SSM031, SSM086
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)esv2721277
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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