A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638146



Internal ID7024932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20533815..20542681hg38UCSC Ensembl
chr16:20545137..20554003hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15404962, essv15404957, essv15404956, essv15404959, essv15404961, essv15404960, essv15404958
SamplesHG01348, HG04022, NA20900, HG03826, NA18608, NA18517, HG03419
Known GenesACSM2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638146
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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