A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981585



Internal ID12972371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189178212..189463213hg38UCSC Ensembl
Innerchr1:189147343..189432343hg19UCSC Ensembl
Innerchr1:187413966..187698966hg18UCSC Ensembl
Innerchr1:185879000..186164000hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38285002
hg19285001
hg18285001
hg17285001
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)essv6981585
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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