A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984898



Internal ID12637016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9267354..9329159hg38UCSC Ensembl
Innerchr1:9327413..9389218hg19UCSC Ensembl
Innerchr1:9250000..9311805hg18UCSC Ensembl
Innerchr1:9261679..9323484hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3861806
hg1961806
hg1861806
hg1761806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750843
Supporting Variants
SamplesSPC_192
Known GenesH6PD, SPSB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984898
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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