A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751551



Internal ID12985103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21522978..21728978hg38UCSC Ensembl
Innerchr16:21534299..21740299hg19UCSC Ensembl
Innerchr16:21441800..21647800hg18UCSC Ensembl
Innerchr16:21441800..21647800hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38206001
hg19206001
hg18206001
hg17206001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988497, essv6982156, essv6982155
SamplesBEC_397
Known GenesIGSF6, METTL9, OTOA
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)esv2751551
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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