A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751817



Internal ID12985369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117017795..117179653hg38UCSC Ensembl
Innerchr2:117775371..117937229hg19UCSC Ensembl
Innerchr2:117491841..117653699hg18UCSC Ensembl
Innerchr2:117491601..117653459hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38161859
hg19161859
hg18161859
hg17161859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv157e55
Supporting Variantsessv6984082, essv6984081, essv6988752
SamplesBEC_768
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)esv2751817
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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