A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5065779



Internal ID7809637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50827676..50829982hg38UCSC Ensembl
Innerchr19:51330932..51333238hg19UCSC Ensembl
Innerchr19:56022744..56025050hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382307
hg192307
hg182307
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422090
Supporting Variants
SamplesNA19684
Known GenesKLK15
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)essv5065779
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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