A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv142e55



Internal ID18985373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42783085..43034808hg38UCSC Ensembl
chr19:43287237..43538960hg19UCSC Ensembl
chr19:47979077..48230800hg18UCSC Ensembl
chr19:47979077..48230800hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38251724
hg19251724
hg18251724
hg17251724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34849, esv2751792, esv34210
SamplesBEC_468, NA18969, NA18524
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
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)dgv142e55
Frequency
Sample Size771
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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