A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34461



Internal ID12643814
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 StatusM
Merged Variants
Supporting Variantsessv6979360, essv6990355
SamplesNA18537
Known GenesPI4KB, POGZ, PSMB4, RFX5, SELENBP1, ZNF687
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34461
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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