A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981244



Internal ID12973022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60763305..60840158hg38UCSC Ensembl
Innerchr5:60059132..60135985hg19UCSC Ensembl
Innerchr5:60094889..60171742hg18UCSC Ensembl
Innerchr5:60094889..60171742hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3876854
hg1976854
hg1876854
hg1776854
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981244
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer