A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984082



Internal ID12977650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117053194..117165194hg38UCSC Ensembl
Innerchr2:117810770..117922770hg19UCSC Ensembl
Innerchr2:117527240..117639240hg18UCSC Ensembl
Innerchr2:117527000..117639000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38112001
hg19112001
hg18112001
hg17112001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751817
Supporting Variants
SamplesBEC_768
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984082
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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