A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605102



Internal ID6992130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55612747..55615206hg38UCSC Ensembl
Innerchr5:55612747..55615206hg38UCSC Ensembl
Outerchr5:55612439..55615569hg38UCSC Ensembl
chr5:54908575..54911034hg19UCSC Ensembl
Innerchr5:54908575..54911034hg19UCSC Ensembl
Outerchr5:54908267..54911397hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382460
hg192460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11906207, essv11906209, essv11906208, essv11906219, essv11906205, essv11906198, essv11906202, essv11906199, essv11906211, essv11906218, essv11906212, essv11906213, essv11906217, essv11906215, essv11906200, essv11906204, essv11906201, essv11906210, essv11906206, essv11906203, essv11906220, essv11906214, essv11906216
SamplesNA20588, HG01485, NA19794, NA12843, HG00244, HG01632, NA20589, HG01968, HG00262, HG01673, HG00182, NA20764, NA12748, HG00380, NA20787, HG01092, HG01094, HG01497, HG01705, HG01107, HG00269, HG00186, HG00180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605102
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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