A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982820



Internal ID12628917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51052156..51598354hg38UCSC Ensembl
Innerchr20:49668693..50214893hg19UCSC Ensembl
Innerchr20:49102100..49648300hg18UCSC Ensembl
Innerchr20:49102100..49648300hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38546199
hg19546201
hg18546201
hg17546201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751917
Supporting Variants
SamplesBEC_601
Known GenesATP9A, MIR3194, NFATC2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982820
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