A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985666



Internal ID12972634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114037..32196237hg38UCSC Ensembl
Innerchr5:32114143..32196343hg19UCSC Ensembl
Innerchr5:32149900..32232100hg18UCSC Ensembl
Innerchr5:32149900..32232100hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3882201
hg1982201
hg1882201
hg1782201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752068
Supporting Variants
SamplesBEC_333
Known GenesGOLPH3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985666
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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