A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986209



Internal ID12975243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107086948..107221431hg38UCSC Ensembl
Innerchr5:106422649..106557132hg19UCSC Ensembl
Innerchr5:106450548..106585031hg18UCSC Ensembl
Innerchr5:106450548..106585031hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38134484
hg19134484
hg18134484
hg17134484
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752056
Supporting Variants
SamplesBEC_57
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986209
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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