A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637841



Internal ID6677941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8691330..8808835hg38UCSC Ensembl
chr16:8785187..8902692hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38117506
hg19117506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15371920, essv15371918, essv15371919
SamplesHG01492, HG01253, HG00566
Known GenesABAT, PMM2, TMEM186
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637841
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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