A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751802



Internal ID12985354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54837236hg38UCSC Ensembl
Innerchr19:55248107..55348691hg19UCSC Ensembl
Innerchr19:59939919..60040503hg18UCSC Ensembl
Innerchr19:59939919..60040503hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38100596
hg19100585
hg18100585
hg17100585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv144e55
Supporting Variantsessv6983775, essv6983774
SamplesBEC_625
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751802
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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