A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751819



Internal ID12985371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117189423..117687760hg38UCSC Ensembl
Innerchr2:117946999..118445336hg19UCSC Ensembl
Innerchr2:117663469..118161806hg18UCSC Ensembl
Innerchr2:117663229..118161566hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38498338
hg19498338
hg18498338
hg17498338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv159e55
Supporting Variantsessv6987999, essv6987998, essv6989255, essv6981682, essv6981683, essv6981684
SamplesBEC_319
Known Genes
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)esv2751819
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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