A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638193



Internal ID6678291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21934532..22029031hg38UCSC Ensembl
chr16:21945853..22040352hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3894500
hg1994500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15416363
SamplesHG01094
Known GenesC16orf52, PDZD9, UQCRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638193
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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