A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604612



Internal ID6991640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32526642..32529953hg38UCSC Ensembl
Innerchr5:32526697..32529899hg38UCSC Ensembl
Outerchr5:32526588..32530008hg38UCSC Ensembl
chr5:32526748..32530059hg19UCSC Ensembl
Innerchr5:32526803..32530005hg19UCSC Ensembl
Outerchr5:32526694..32530114hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383312
hg193312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11857066, essv11857059, essv11857067, essv11857058, essv11857077, essv11857072, essv11857071, essv11857060, essv11857075, essv11857065, essv11857061, essv11857070, essv11857064, essv11857062, essv11857068, essv11857063, essv11857074, essv11857069, essv11857073, essv11857076
SamplesHG03559, HG02890, HG03378, HG02870, NA20294, HG02485, HG02756, HG01393, NA19025, HG03120, NA19908, HG01880, HG03027, HG02497, HG02817, NA18858, HG01956, HG02839, NA19248, HG03157
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604612
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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