A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594426



Internal ID6981746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222600450..222603767hg38UCSC Ensembl
Innerchr2:222600474..222603743hg38UCSC Ensembl
Outerchr2:222600426..222603791hg38UCSC Ensembl
chr2:223465169..223468486hg19UCSC Ensembl
Innerchr2:223465193..223468462hg19UCSC Ensembl
Outerchr2:223465145..223468510hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383318
hg193318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10862185, essv10862186
SamplesNA19072, HG02410
Known GenesFARSB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594426
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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