A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980030



Internal ID12981144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54736887..54741387hg38UCSC Ensembl
Innerchr16:54770799..54775299hg19UCSC Ensembl
Innerchr16:53328300..53332800hg18UCSC Ensembl
Innerchr16:53328300..53332800hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg384501
hg194501
hg184501
hg174501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34604
Supporting Variants
SamplesNA18942
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980030
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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