A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751556



Internal ID12638422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33661632..35905128hg38UCSC Ensembl
Innerchr16:33464099..35139499hg19UCSC Ensembl
Innerchr16:33371600..34997000hg18UCSC Ensembl
Innerchr16:33371600..34997000hg17UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg382243497
hg191675401
hg181625401
hg171625401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981963, essv6988474, essv6981965, essv6981964, essv6981966
SamplesBEC_51
Known GenesFLJ26245, LINC00273, LOC100130700, LOC146481, LOC283914, RNU6-76P, UBE2MP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751556
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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