A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10828827



Internal ID4628279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206996005..207004198hg38UCSC Ensembl
Innerchr2:206996055..207004148hg38UCSC Ensembl
Outerchr2:206995921..207004282hg38UCSC Ensembl
chr2:207860729..207868922hg19UCSC Ensembl
Innerchr2:207860779..207868872hg19UCSC Ensembl
Outerchr2:207860645..207869006hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388194
hg198194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594076
Supporting Variants
SamplesHG04159
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10828827
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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