A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605591



Internal ID6992529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81239564..81240483hg38UCSC Ensembl
Innerchr5:81239585..81240463hg38UCSC Ensembl
Outerchr5:81239544..81240504hg38UCSC Ensembl
chr5:80535383..80536302hg19UCSC Ensembl
Innerchr5:80535404..80536282hg19UCSC Ensembl
Outerchr5:80535363..80536323hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11956682
SamplesHG04222
Known GenesCKMT2, CKMT2-AS1, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605591
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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