A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592768



Internal ID6633051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144379711..144546411hg38UCSC Ensembl
Innerchr2:144380211..144545911hg38UCSC Ensembl
Outerchr2:144378711..144547411hg38UCSC Ensembl
chr2:145137278..145303978hg19UCSC Ensembl
Innerchr2:145137778..145303478hg19UCSC Ensembl
Outerchr2:145136278..145304978hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38166701
hg19166701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10695746
SamplesHG00146
Known GenesZEB2, ZEB2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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