A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979360



Internal ID12633367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151268066..151439159hg38UCSC Ensembl
Innerchr1:151240542..151411635hg19UCSC Ensembl
Innerchr1:149507166..149678259hg18UCSC Ensembl
Innerchr1:148053615..148224708hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38171094
hg19171094
hg18171094
hg17171094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34461
Supporting Variants
SamplesNA18537
Known GenesPI4KB, POGZ, PSMB4, RFX5, SELENBP1, ZNF687
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979360
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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