A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293309



Internal ID4295125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119192974..119203413hg38UCSC Ensembl
Innerchr11:119192974..119203413hg38UCSC Ensembl
Outerchr11:119192474..119203913hg38UCSC Ensembl
chr11:119063684..119074123hg19UCSC Ensembl
Innerchr11:119063684..119074123hg19UCSC Ensembl
Outerchr11:119063184..119074623hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3810440
hg1910440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627886
Supporting Variants
SamplesNA21108
Known GenesCCDC153
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293309
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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