A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275533



Internal ID348439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29877216..29878007hg38UCSC Ensembl
Outerchr13:29875501..29878317hg38UCSC Ensembl
Innerchr13:30451353..30452144hg19UCSC Ensembl
Outerchr13:30449638..30452454hg19UCSC Ensembl
Innerchr13:29349353..29350144hg18UCSC Ensembl
Outerchr13:29347638..29350454hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382817
hg192817
hg182817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585756, essv2586056
Samples
Known GenesLINC00297
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275533
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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