A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984462



Internal ID12977026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35207424..35526596hg38UCSC Ensembl
Innerchr16:34441795..34760967hg19UCSC Ensembl
Innerchr16:34299296..34618468hg18UCSC Ensembl
Innerchr16:34299296..34618468hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38319173
hg19319173
hg18319173
hg17319173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751574
Supporting Variants
SamplesBEC_708
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984462
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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