A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv140e55



Internal ID20126619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42693883..43301208hg38UCSC Ensembl
chr19:43198035..43805360hg19UCSC Ensembl
chr19:47889875..48497200hg18UCSC Ensembl
chr19:47889875..48497200hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38607326
hg19607326
hg18607326
hg17607326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34541, esv2751786, esv2751790, esv34426, esv34661
SamplesNA19203, BEC_298, BEC_402, NA18605, NA18537
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9
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)dgv140e55
Frequency
Sample Size771
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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