A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981986



Internal ID12974249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35207424..35522700hg38UCSC Ensembl
Innerchr16:34441795..34757071hg19UCSC Ensembl
Innerchr16:34299296..34614572hg18UCSC Ensembl
Innerchr16:34299296..34614572hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38315277
hg19315277
hg18315277
hg17315277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751580
Supporting Variants
SamplesBEC_510
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981986
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