A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984692



Internal ID12983350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121653043..121765151hg38UCSC Ensembl
Innerchr5:120988738..121100846hg19UCSC Ensembl
Innerchr5:121016637..121128745hg18UCSC Ensembl
Innerchr5:121016637..121128745hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38112109
hg19112109
hg18112109
hg17112109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752059
Supporting Variants
SamplesSPC_166
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984692
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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