A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586056



Internal ID347635
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
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275533
Supporting Variants
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)essv2586056
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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