A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5054617



Internal ID8162011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54748501..54837236hg38UCSC Ensembl
Innerchr19:55259953..55348691hg19UCSC Ensembl
Innerchr19:59951765..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3888736
hg1988739
hg1888739
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421952
Supporting Variants
SamplesNA19139
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5054617
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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