A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981243



Internal ID12973023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60752116..60821016hg38UCSC Ensembl
Innerchr5:60047943..60116843hg19UCSC Ensembl
Innerchr5:60083700..60152600hg18UCSC Ensembl
Innerchr5:60083700..60152600hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3868901
hg1968901
hg1868901
hg1768901
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)essv6981243
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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