A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293351



Internal ID6319669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119223299..119229897hg38UCSC Ensembl
Innerchr11:119223449..119229747hg38UCSC Ensembl
Outerchr11:119223149..119230047hg38UCSC Ensembl
chr11:119094009..119100607hg19UCSC Ensembl
Innerchr11:119094159..119100457hg19UCSC Ensembl
Outerchr11:119093859..119100757hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386599
hg196599
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627888
Supporting Variants
SamplesNA19917
Known GenesCBL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293351
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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