A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307010



Internal ID15153958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77130617..77130618hg38UCSC Ensembl
Innerchr5:77130598..77130637hg38UCSC Ensembl
Outerchr5:77130597..77130638hg38UCSC Ensembl
chr5:76426442..76426443hg19UCSC Ensembl
Innerchr5:76426423..76426462hg19UCSC Ensembl
Outerchr5:76426422..76426463hg19UCSC Ensembl
chr5:76462198..76462199hg18UCSC Ensembl
Innerchr5:76462218..76462179hg18UCSC Ensembl
Outerchr5:76462178..76462219hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386016
hg196016
hg186016
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7797196, essv7782052, essv7793242, essv7775095, essv7805859
SamplesNA19141, NA18870, NA18489, NA19257, NA19129
Known GenesZBED3-AS1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307010
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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