A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979748



Internal ID12633996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225477563..225486563hg38UCSC Ensembl
Innerchr1:225665265..225674265hg19UCSC Ensembl
Innerchr1:223731888..223740888hg18UCSC Ensembl
Innerchr1:221972000..221981000hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg389001
hg199001
hg189001
hg179001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34905
Supporting Variants
SamplesNA18621
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979748
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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