A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985598



Internal ID12972272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:43150303..43261813hg38UCSC Ensembl
Innerchr20:41778943..41890453hg19UCSC Ensembl
Innerchr20:41212357..41323867hg18UCSC Ensembl
Innerchr20:41212357..41323867hg17UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38111511
hg19111511
hg18111511
hg17111511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751914
Supporting Variants
SamplesBEC_293
Known GenesPTPRT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985598
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