A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34490



Internal ID12990527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7304349..7387813hg38UCSC Ensembl
Innerchr7:7343980..7427444hg19UCSC Ensembl
Innerchr7:7310505..7393969hg18UCSC Ensembl
Innerchr7:7117220..7200684hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3883465
hg1983465
hg1883465
hg1783465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv221e55
Supporting Variantsessv6989024, essv6978440, essv6987395, essv6978441, essv6978442
SamplesNA19099
Known GenesCOL28A1
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)esv34490
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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