A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638643



Internal ID6678740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53057939..53061216hg38UCSC Ensembl
chr16:53091851..53095128hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383278
hg193278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15478716, essv15478715, essv15478717
SamplesHG01510, HG00096, HG02072
Known GenesCHD9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638643
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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