A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978897



Internal ID12979305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150718978..150884978hg38UCSC Ensembl
Innerchr2:151575492..151741492hg19UCSC Ensembl
Innerchr2:151283738..151449738hg18UCSC Ensembl
Innerchr2:151401000..151567000hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38166001
hg19166001
hg18166001
hg17166001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35134
Supporting Variants
SamplesNA12760
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978897
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