A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986273



Internal ID12628912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51161154..51584243hg38UCSC Ensembl
Innerchr20:49777691..50200782hg19UCSC Ensembl
Innerchr20:49211098..49634189hg18UCSC Ensembl
Innerchr20:49211098..49634189hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38423090
hg19423092
hg18423092
hg17423092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751917
Supporting Variants
SamplesBEC_601
Known GenesMIR3194, NFATC2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986273
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