A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275239



Internal ID348145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119227699..119228029hg38UCSC Ensembl
Outerchr12:119224980..119228935hg38UCSC Ensembl
Innerchr12:119665504..119665834hg19UCSC Ensembl
Outerchr12:119662785..119666740hg19UCSC Ensembl
Innerchr12:118149887..118150217hg18UCSC Ensembl
Outerchr12:118147168..118151123hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383956
hg193956
hg183956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585365
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275239
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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