A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15566720



Internal ID5568536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88745961..88899576hg38UCSC Ensembl
chr16:88812369..88965984hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38153616
hg19153616
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639555
Supporting Variants
SamplesHG02476
Known GenesAPRT, CBFA2T3, CDT1, GALNS, PABPN1L, PIEZO1, TRAPPC2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15566720
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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