A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981430



Internal ID12972087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3078866..3151816hg38UCSC Ensembl
Innerchr5:3078980..3151930hg19UCSC Ensembl
Innerchr5:3131980..3204930hg18UCSC Ensembl
Innerchr5:3131980..3204930hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3872951
hg1972951
hg1872951
hg1772951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752065
Supporting Variants
SamplesBEC_191
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981430
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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