A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15569957



Internal ID5571773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89944533..90039438hg38UCSC Ensembl
chr16:90010941..90105846hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3894906
hg1994906
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639603
Supporting Variants
SamplesHG02595
Known GenesAFG3L1P, C16orf3, CENPBD1, DBNDD1, DEF8, GAS8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15569957
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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