A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695746



Internal ID697562
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592768
Supporting Variants
SamplesHG00146
Known GenesZEB2, ZEB2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695746
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer