A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv141e55



Internal ID20126620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42736227..43227007hg38UCSC Ensembl
chr19:43240379..43731159hg19UCSC Ensembl
chr19:47932219..48422999hg18UCSC Ensembl
chr19:47932219..48422999hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38490781
hg19490781
hg18490781
hg17490781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751788, esv2751787, esv2751793, esv2751791, esv2751789
SamplesBEC_98, BEC_739, SPC_7, SPC_186, BEC_446
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8
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)dgv141e55
Frequency
Sample Size771
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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