A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720469



Internal ID10304105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:103944022..103944129hg38UCSC Ensembl
Outerchr2:104560480..104560587hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955351, essv6669535, essv6906459
SamplesSSM026, SSM031, SSM014
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)esv2720469
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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