A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832915



Internal ID1338427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208069581..208077041hg38UCSC Ensembl
Innerchr2:208069602..208077021hg38UCSC Ensembl
Outerchr2:208069561..208077062hg38UCSC Ensembl
chr2:208934305..208941765hg19UCSC Ensembl
Innerchr2:208934326..208941745hg19UCSC Ensembl
Outerchr2:208934285..208941786hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387461
hg197461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594104
Supporting Variants
SamplesHG01177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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