A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14289830



Internal ID4291646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114650527..115124691hg38UCSC Ensembl
Innerchr11:114650677..115124541hg38UCSC Ensembl
Outerchr11:114650377..115124841hg38UCSC Ensembl
chr11:114521249..114995411hg19UCSC Ensembl
Innerchr11:114521399..114995261hg19UCSC Ensembl
Outerchr11:114521099..114995561hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38474165
hg19474163
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627797
Supporting Variants
SamplesNA19917
Known GenesNXPE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14289830
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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