A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985692



Internal ID12974099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736641..54811638hg38UCSC Ensembl
Innerchr19:55248107..55323093hg19UCSC Ensembl
Innerchr19:59939919..60014905hg18UCSC Ensembl
Innerchr19:59939919..60014905hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3874998
hg1974987
hg1874987
hg1774987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751804
Supporting Variants
SamplesBEC_5
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, LOC100287534
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985692
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer