A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783023



Internal ID18828089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197515006..197588244hg38UCSC Ensembl
Innerchr3:197241877..197315115hg19UCSC Ensembl
Innerchr3:198726274..198799512hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3873239
hg1973239
hg1873239
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893854
Supporting Variants
Samples
Known GenesBDH1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783023
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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