A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981242



Internal ID12973024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60738648..60840799hg38UCSC Ensembl
Innerchr5:60034475..60136626hg19UCSC Ensembl
Innerchr5:60070232..60172383hg18UCSC Ensembl
Innerchr5:60070232..60172383hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38102152
hg19102152
hg18102152
hg17102152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752073
Supporting Variants
SamplesBEC_371
Known GenesELOVL7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981242
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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