A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751832



Internal ID12638698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164768076..164882504hg38UCSC Ensembl
Innerchr2:165624586..165739014hg19UCSC Ensembl
Innerchr2:165332832..165447260hg18UCSC Ensembl
Innerchr2:165450093..165564521hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38114429
hg19114429
hg18114429
hg17114429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163e55
Supporting Variantsessv6983465, essv6988673, essv6983464
SamplesBEC_658
Known GenesCOBLL1
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)esv2751832
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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