A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14220580



Internal ID5604378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:84425377..84519400hg38UCSC Ensembl
chr11:84136420..84230443hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3894024
hg1994024
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627047
Supporting Variants
SamplesNA19036
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14220580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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