A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980550



Internal ID12982623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193694213..193713213hg38UCSC Ensembl
Innerchr1:193663343..193682343hg19UCSC Ensembl
Innerchr1:191929966..191948966hg18UCSC Ensembl
Innerchr1:190395000..190414000hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3819001
hg1919001
hg1819001
hg1719001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34261
Supporting Variants
SamplesNA19209
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980550
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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