A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275034



Internal ID347940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105478934..105480370hg38UCSC Ensembl
Outerchr13:105478789..105480809hg38UCSC Ensembl
Innerchr13:106131283..106132719hg19UCSC Ensembl
Outerchr13:106131138..106133158hg19UCSC Ensembl
Innerchr13:104929284..104930720hg18UCSC Ensembl
Outerchr13:104929139..104931159hg18UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg382021
hg192021
hg182021
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585769, essv2585841
Samples
Known GenesDAOA, DAOA-AS1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275034
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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