A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10819918



Internal ID4578286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200014351..200018071hg38UCSC Ensembl
Innerchr2:200014351..200018071hg38UCSC Ensembl
Outerchr2:200014241..200018228hg38UCSC Ensembl
chr2:200879074..200882794hg19UCSC Ensembl
Innerchr2:200879074..200882794hg19UCSC Ensembl
Outerchr2:200878964..200882951hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383721
hg193721
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593952
Supporting Variants
SamplesHG04093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10819918
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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