A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639425



Internal ID6679518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84434443..84553305hg38UCSC Ensembl
Innerchr16:84434593..84553155hg38UCSC Ensembl
Outerchr16:84434293..84553455hg38UCSC Ensembl
chr16:84468049..84586911hg19UCSC Ensembl
Innerchr16:84468199..84586761hg19UCSC Ensembl
Outerchr16:84467899..84587061hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38118863
hg19118863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv549e214
Supporting Variantsessv15545873
SamplesHG00362
Known GenesATP2C2, TLDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639425
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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