A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978440



Internal ID12981972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7304349..7386029hg38UCSC Ensembl
Innerchr7:7343980..7425660hg19UCSC Ensembl
Innerchr7:7310505..7392185hg18UCSC Ensembl
Innerchr7:7117220..7198900hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3881681
hg1981681
hg1881681
hg1781681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34490
Supporting Variants
SamplesNA19099
Known GenesCOL28A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978440
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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