A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15416337



Internal ID5418153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21599042..21731573hg38UCSC Ensembl
chr16:21610363..21742894hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38132532
hg19132532
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638186
Supporting Variants
SamplesNA19716
Known GenesIGSF6, METTL9, OTOA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15416337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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