A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349246



Internal ID15196228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77130620..77130654hg38UCSC Ensembl
Innerchr5:77130629..77130643hg38UCSC Ensembl
Outerchr5:77130597..77130677hg38UCSC Ensembl
chr5:76426445..76426479hg19UCSC Ensembl
Innerchr5:76426454..76426468hg19UCSC Ensembl
Outerchr5:76426422..76426502hg19UCSC Ensembl
chr5:76462201..76462235hg18UCSC Ensembl
Innerchr5:76462224..76462210hg18UCSC Ensembl
Outerchr5:76462178..76462258hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386016
hg196016
hg186016
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924959, essv8924956, essv8924957, essv8924955
SamplesNA18870, NA18489, NA19257, NA19129
Known GenesZBED3-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349246
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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