A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979539



Internal ID12980334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88887161..89160355hg38UCSC Ensembl
Innerchr13:89539415..89812609hg19UCSC Ensembl
Innerchr13:88337416..88610610hg18UCSC Ensembl
Innerchr13:88337416..88610610hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38273195
hg19273195
hg18273195
hg17273195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34578
Supporting Variants
SamplesNA18566
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979539
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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