A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979538



Internal ID12980343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88887145..89160345hg38UCSC Ensembl
Innerchr13:89539399..89812599hg19UCSC Ensembl
Innerchr13:88337400..88610600hg18UCSC Ensembl
Innerchr13:88337400..88610600hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38273201
hg19273201
hg18273201
hg17273201
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)essv6979538
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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