A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981500



Internal ID12625541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9267354..9344634hg38UCSC Ensembl
Innerchr1:9327413..9404693hg19UCSC Ensembl
Innerchr1:9250000..9327280hg18UCSC Ensembl
Innerchr1:9261679..9338959hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3877281
hg1977281
hg1877281
hg1777281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750846
Supporting Variants
SamplesBEC_287
Known GenesH6PD, SPSB1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981500
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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