A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988589



Internal ID12628914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:51166256..51596754hg38UCSC Ensembl
Innerchr20:49782793..50213293hg19UCSC Ensembl
Innerchr20:49216200..49646700hg18UCSC Ensembl
Innerchr20:49216200..49646700hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38430499
hg19430501
hg18430501
hg17430501
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)essv6988589
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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