A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981584



Internal ID12972360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189178049..189462914hg38UCSC Ensembl
Innerchr1:189147180..189432044hg19UCSC Ensembl
Innerchr1:187413803..187698667hg18UCSC Ensembl
Innerchr1:185878837..186163701hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38284866
hg19284865
hg18284865
hg17284865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750818
Supporting Variants
SamplesBEC_303
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981584
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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