A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607138



Internal ID6647380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149260436..149314520hg38UCSC Ensembl
chr5:148639999..148694083hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3854085
hg1954085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12094483
SamplesNA21144
Known GenesAFAP1L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607138
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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