A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15543237



Internal ID5545053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82823229..82828006hg38UCSC Ensembl
Innerchr16:82823229..82828006hg38UCSC Ensembl
Outerchr16:82823125..82828160hg38UCSC Ensembl
chr16:82856834..82861611hg19UCSC Ensembl
Innerchr16:82856834..82861611hg19UCSC Ensembl
Outerchr16:82856730..82861765hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg384778
hg194778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639372
Supporting Variants
SamplesHG02078
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15543237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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