A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14308941



Internal ID4859757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128960979..128964940hg38UCSC Ensembl
Innerchr11:128960979..128964940hg38UCSC Ensembl
Outerchr11:128960846..128965041hg38UCSC Ensembl
chr11:128830874..128834835hg19UCSC Ensembl
Innerchr11:128830874..128834835hg19UCSC Ensembl
Outerchr11:128830741..128834936hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg383962
hg193962
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628053
Supporting Variants
SamplesNA12282
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14308941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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