A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982647



Internal ID12975319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35244934..35556000hg38UCSC Ensembl
Innerchr16:34479305..34790371hg19UCSC Ensembl
Innerchr16:34336806..34647872hg18UCSC Ensembl
Innerchr16:34336806..34647872hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38311067
hg19311067
hg18311067
hg17311067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751602
Supporting Variants
SamplesBEC_575
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982647
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