A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10705219



Internal ID4428235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146485876..146488009hg38UCSC Ensembl
Innerchr2:146485893..146487993hg38UCSC Ensembl
Outerchr2:146485860..146488026hg38UCSC Ensembl
chr2:147243444..147245577hg19UCSC Ensembl
Innerchr2:147243461..147245561hg19UCSC Ensembl
Outerchr2:147243428..147245594hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592803
Supporting Variants
SamplesHG03941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10705219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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