A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501380



Internal ID5503196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66954140..67031371hg38UCSC Ensembl
chr16:66988043..67065274hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3877232
hg1977232
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638875
Supporting Variants
SamplesHG03696
Known GenesCBFB, CES3, CES4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501380
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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