A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983932



Internal ID12977416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191514213..191610213hg38UCSC Ensembl
Innerchr1:191483343..191579343hg19UCSC Ensembl
Innerchr1:189749966..189845966hg18UCSC Ensembl
Innerchr1:188215000..188311000hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3896001
hg1996001
hg1896001
hg1796001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750821
Supporting Variants
SamplesBEC_735
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983932
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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