A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4300n100



Internal ID20155916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31247234..32033468hg38UCSC Ensembl
chr20:29835037..30621271hg19UCSC Ensembl
chr20:29298698..30084932hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38786235
hg19786235
hg18786235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058344, nsv1059672
Samples
Known GenesBCL2L1, CCM2L, COX4I2, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, DUSP15, FOXS1, HM13, HM13-AS1, ID1, LINC00028, MIR3193, MYLK2, PDRG1, PSIMCT-1, REM1, TPX2, TTLL9, XKR7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4300n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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