A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990031



Internal ID12636921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54791531..54815139hg38UCSC Ensembl
Innerchr19:55302983..55326594hg19UCSC Ensembl
Innerchr19:59994795..60018406hg18UCSC Ensembl
Innerchr19:59994795..60018406hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3823609
hg1923612
hg1823612
hg1723612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751805
Supporting Variants
SamplesSPC_184
Known GenesKIR2DL4, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990031
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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