A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545874



Internal ID5547690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84442390..84555604hg38UCSC Ensembl
chr16:84475996..84589210hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38113215
hg19113215
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639426
Supporting Variants
SamplesHG00362
Known GenesATP2C2, TLDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545874
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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