A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752056



Internal ID12985608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107086948..107227400hg38UCSC Ensembl
Innerchr5:106422649..106563101hg19UCSC Ensembl
Innerchr5:106450548..106591000hg18UCSC Ensembl
Innerchr5:106450548..106591000hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38140453
hg19140453
hg18140453
hg17140453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982604, essv6986209, essv6986210, essv6982605, essv6982606
SamplesBEC_57
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)esv2752056
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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