A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593224



Internal ID6633504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164757711..164791050hg38UCSC Ensembl
Innerchr2:164757751..164791011hg38UCSC Ensembl
Outerchr2:164757672..164791090hg38UCSC Ensembl
chr2:165614221..165647560hg19UCSC Ensembl
Innerchr2:165614261..165647521hg19UCSC Ensembl
Outerchr2:165614182..165647600hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3833340
hg1933340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10745730, essv10745731
SamplesNA19834, HG03380
Known GenesCOBLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593224
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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