A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981803



Internal ID12973949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39968471..40115943hg38UCSC Ensembl
Innerchr14:40437675..40585147hg19UCSC Ensembl
Innerchr14:39507426..39654898hg18UCSC Ensembl
Innerchr14:39507426..39654898hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38147473
hg19147473
hg18147473
hg17147473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751274
Supporting Variants
SamplesBEC_48
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981803
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