A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639242



Internal ID7026025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79224245..79245954hg38UCSC Ensembl
chr16:79258142..79279851hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3821710
hg1921710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15530824, essv15530822, essv15530825, essv15530820, essv15530821, essv15530815, essv15530813, essv15530814, essv15530812, essv15530823, essv15530817, essv15530819, essv15530818, essv15530816
SamplesHG01492, NA12005, HG00335, HG02737, HG01768, HG01142, HG01607, HG01504, HG01530, HG04186, HG01489, NA19474, HG00234, HG01509
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639242
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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