A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752073



Internal ID12985625
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 StatusM
Merged Variants
Supporting Variantsessv6981242, essv6987930, essv6981244, essv6981243, essv6987929
SamplesBEC_371
Known GenesELOVL7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752073
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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