A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751804



Internal ID12985356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54871595hg38UCSC Ensembl
Innerchr19:55248107..55383051hg19UCSC Ensembl
Innerchr19:59939919..60074863hg18UCSC Ensembl
Innerchr19:59939919..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 Variantsdgv144e55
Supporting Variantsessv6988463, essv6981896, essv6985692
SamplesBEC_5
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751804
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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