A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981901



Internal ID12974130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54422687..54530087hg38UCSC Ensembl
Innerchr16:54456599..54563999hg19UCSC Ensembl
Innerchr16:53014100..53121500hg18UCSC Ensembl
Innerchr16:53014100..53121500hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38107401
hg19107401
hg18107401
hg17107401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751609
Supporting Variants
SamplesBEC_500
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981901
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