A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv145e55



Internal ID20126624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54739639..54845969hg38UCSC Ensembl
chr19:55251085..55357424hg19UCSC Ensembl
chr19:59942897..60049236hg18UCSC Ensembl
chr19:59942897..60049236hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38106331
hg19106340
hg18106340
hg17106340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751805, esv2751806
SamplesSPC_184, BEC_792
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
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)dgv145e55
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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