A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv143e55



Internal ID18985374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51724663..52127682hg38UCSC Ensembl
chr19:52227916..52630935hg19UCSC Ensembl
chr19:56919728..57322747hg18UCSC Ensembl
chr19:56919728..57322747hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38403020
hg19403020
hg18403020
hg17403020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751800, esv2751797, esv34502, esv2751801, esv34938, esv2751799, esv2751798
SamplesSPC_88, BEC_686, NA10855, BEC_540, NA11832, BEC_671, SPC_195
Known GenesFPR1, FPR2, FPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv143e55
Frequency
Sample Size771
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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