A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832933



Internal ID4004474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208105293..208109290hg38UCSC Ensembl
Innerchr2:208105443..208109140hg38UCSC Ensembl
Outerchr2:208105143..208109440hg38UCSC Ensembl
chr2:208970017..208974014hg19UCSC Ensembl
Innerchr2:208970167..208973864hg19UCSC Ensembl
Outerchr2:208969867..208974164hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594105
Supporting Variants
SamplesHG03653
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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