A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978765



Internal ID12979075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105049648..105094648hg38UCSC Ensembl
Innerchr13:105701999..105746999hg19UCSC Ensembl
Innerchr13:104500000..104545000hg18UCSC Ensembl
Innerchr13:104500000..104545000hg17UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3845001
hg1945001
hg1845001
hg1745001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34774
Supporting Variants
SamplesNA12236
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978765
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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