A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982604



Internal ID12975251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107113400..107227400hg38UCSC Ensembl
Innerchr5:106449101..106563101hg19UCSC Ensembl
Innerchr5:106477000..106591000hg18UCSC Ensembl
Innerchr5:106477000..106591000hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38114001
hg19114001
hg18114001
hg17114001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752056
Supporting Variants
SamplesBEC_57
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982604
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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