A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984787



Internal ID12983530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208273014..208281026hg38UCSC Ensembl
Innerchr1:208446359..208454371hg19UCSC Ensembl
Innerchr1:206512982..206520994hg18UCSC Ensembl
Innerchr1:204834754..204842766hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388013
hg198013
hg188013
hg178013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750828
Supporting Variants
SamplesSPC_18
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984787
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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