A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv144e55



Internal ID20126623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54736641..54871595hg38UCSC Ensembl
chr19:55248107..55383051hg19UCSC Ensembl
chr19:59939919..60074863hg18UCSC Ensembl
chr19:59939919..60074863hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38134955
hg19134945
hg18134945
hg17134945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751804, esv2751803, esv2751802
SamplesBEC_505, BEC_5, BEC_625
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, 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)dgv144e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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