A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982930



Internal ID12974532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106713400..106808400hg38UCSC Ensembl
Innerchr5:106049101..106144101hg19UCSC Ensembl
Innerchr5:106077000..106172000hg18UCSC Ensembl
Innerchr5:106077000..106172000hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3895001
hg1995001
hg1895001
hg1795001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752055
Supporting Variants
SamplesBEC_527
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982930
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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