A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981586



Internal ID12972370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189212212..189509213hg38UCSC Ensembl
Innerchr1:189181343..189478343hg19UCSC Ensembl
Innerchr1:187447966..187744966hg18UCSC Ensembl
Innerchr1:185913000..186210000hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38297002
hg19297001
hg18297001
hg17297001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981586
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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