A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981896



Internal ID12974106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54768453..54845969hg38UCSC Ensembl
Innerchr19:55279905..55357424hg19UCSC Ensembl
Innerchr19:59971717..60049236hg18UCSC Ensembl
Innerchr19:59971717..60049236hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3877517
hg1977520
hg1877520
hg1777520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751804
Supporting Variants
SamplesBEC_5
Known GenesKIR2DL1, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981896
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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