A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978455



Internal ID12981997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7304349..7386033hg38UCSC Ensembl
Innerchr7:7343980..7425664hg19UCSC Ensembl
Innerchr7:7310505..7392189hg18UCSC Ensembl
Innerchr7:7117220..7198904hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3881685
hg1981685
hg1881685
hg1781685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34328
Supporting Variants
SamplesNA19100
Known GenesCOL28A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978455
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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