A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116532



Internal ID2118348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160433056..160568517hg38UCSC Ensembl
chr5:159860063..159995524hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38135462
hg19135462
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607372
Supporting Variants
SamplesHG01528
Known GenesATP10B, MIR146A, MIR3142
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116532
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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