A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981834



Internal ID12974009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189095200..189368867hg38UCSC Ensembl
Innerchr1:189064331..189337997hg19UCSC Ensembl
Innerchr1:187330954..187604620hg18UCSC Ensembl
Innerchr1:185795988..186069654hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38273668
hg19273667
hg18273667
hg17273667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750819
Supporting Variants
SamplesBEC_492
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981834
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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