A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287056



Internal ID4288872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112022570..112024951hg38UCSC Ensembl
Innerchr11:112022587..112024935hg38UCSC Ensembl
Outerchr11:112022554..112024968hg38UCSC Ensembl
chr11:111893294..111895675hg19UCSC Ensembl
Innerchr11:111893311..111895659hg19UCSC Ensembl
Outerchr11:111893278..111895692hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg382382
hg192382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627749
Supporting Variants
SamplesNA19379
Known GenesDIXDC1, DLAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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