A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378982



Internal ID15225954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77279516..77279535hg38UCSC Ensembl
Innerchr11:77279512..77279539hg38UCSC Ensembl
Outerchr11:77279493..77279558hg38UCSC Ensembl
chr11:76990561..76990580hg19UCSC Ensembl
Innerchr11:76990557..76990584hg19UCSC Ensembl
Outerchr11:76990538..76990603hg19UCSC Ensembl
chr11:76668209..76668228hg18UCSC Ensembl
Innerchr11:76668232..76668205hg18UCSC Ensembl
Outerchr11:76668186..76668251hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9653080, essv9653136, essv9653125, essv9653091, essv9653114, essv9653102
SamplesNA12045, NA12812, NA12815, NA12249, NA12873, NA12874
Known GenesGDPD4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378982
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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