A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14294704



Internal ID4296520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120129619..120131730hg38UCSC Ensembl
Innerchr11:120129619..120131730hg38UCSC Ensembl
Outerchr11:120129327..120132006hg38UCSC Ensembl
chr11:120000327..120002438hg19UCSC Ensembl
Innerchr11:120000327..120002438hg19UCSC Ensembl
Outerchr11:120000035..120002714hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382112
hg192112
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627899
Supporting Variants
SamplesHG01630
Known GenesTRIM29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14294704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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