A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784331



Internal ID18820162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:33437386..33486199hg38UCSC Ensembl
Innerchr21:34809693..34858506hg19UCSC Ensembl
Innerchr21:33731563..33780376hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3848814
hg1948814
hg1848814
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893406
Supporting Variants
Samples
Known GenesIFNGR2, TMEM50B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784331
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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