A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786187



Internal ID18823591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790175..54815284hg38UCSC Ensembl
Innerchr19:55301627..55326739hg19UCSC Ensembl
Innerchr19:59993439..60018551hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3825110
hg1925113
hg1825113
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893249
Supporting Variants
Samples
Known GenesKIR2DL4, LOC100287534
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786187
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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