A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639555



Internal ID6679647
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15566720
SamplesHG02476
Known GenesAPRT, CBFA2T3, CDT1, GALNS, PABPN1L, PIEZO1, TRAPPC2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639555
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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