A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34912



Internal ID12644262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110076984..110223048hg38UCSC Ensembl
Innerchr2:110834561..110980625hg19UCSC Ensembl
Innerchr2:110191850..110337914hg18UCSC Ensembl
Innerchr2:110191936..110338000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38146065
hg19146065
hg18146065
hg17146065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv155e55
Supporting Variantsessv6980169, essv6990451, essv6987023
SamplesNA18966
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
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)esv34912
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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