A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988194



Internal ID12980339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40875741..40991241hg38UCSC Ensembl
Innerchr5:40875843..40991343hg19UCSC Ensembl
Innerchr5:40911600..41027100hg18UCSC Ensembl
Innerchr5:40911600..41027100hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38115501
hg19115501
hg18115501
hg17115501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35077
Supporting Variants
SamplesNA18566
Known GenesC7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988194
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