A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591969



Internal ID6979296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110781969..110782639hg38UCSC Ensembl
Innerchr2:110781968..110782640hg38UCSC Ensembl
Outerchr2:110781969..110782639hg38UCSC Ensembl
chr2:111539546..111540216hg19UCSC Ensembl
Innerchr2:111540217..111539545hg19UCSC Ensembl
Outerchr2:111539546..111540216hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10617826
SamplesHG02968
Known GenesACOXL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591969
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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