A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287949



Internal ID3451192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112739198..112786895hg38UCSC Ensembl
Innerchr11:112739200..112786893hg38UCSC Ensembl
Outerchr11:112739196..112786897hg38UCSC Ensembl
chr11:112609921..112657618hg19UCSC Ensembl
Innerchr11:112609923..112657616hg19UCSC Ensembl
Outerchr11:112609919..112657620hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3847698
hg1947698
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627764
Supporting Variants
SamplesHG03078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287949
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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