A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987395



Internal ID12981977
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 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)essv6987395
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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