A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751818



Internal ID12985370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117188906..117374756hg38UCSC Ensembl
Innerchr2:117946482..118132332hg19UCSC Ensembl
Innerchr2:117662952..117848802hg18UCSC Ensembl
Innerchr2:117662712..117848562hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38185851
hg19185851
hg18185851
hg17185851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e55
Supporting Variantsessv6982042, essv6982041, essv6989278, essv6989556
SamplesBEC_515
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)esv2751818
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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