A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638875



Internal ID7025660
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv526e214
Supporting Variantsessv15501380, essv15501381
SamplesHG03696, HG03848
Known GenesCBFB, CES3, CES4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638875
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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