A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984048



Internal ID12977595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60087427..60302699hg38UCSC Ensembl
Innerchr3:60073153..60288428hg19UCSC Ensembl
Innerchr3:60048193..60263468hg18UCSC Ensembl
Innerchr3:60048193..60263468hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38215273
hg19215276
hg18215276
hg17215276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752011
Supporting Variants
SamplesBEC_759
Known GenesFHIT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984048
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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