A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984047



Internal ID12977603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60087427..60264336hg38UCSC Ensembl
Innerchr3:60073153..60250064hg19UCSC Ensembl
Innerchr3:60048193..60225104hg18UCSC Ensembl
Innerchr3:60048193..60225104hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38176910
hg19176912
hg18176912
hg17176912
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984047
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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