A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10876186



Internal ID655305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231532326..231535427hg38UCSC Ensembl
Innerchr2:231532376..231535377hg38UCSC Ensembl
Outerchr2:231532276..231535477hg38UCSC Ensembl
chr2:232397037..232400138hg19UCSC Ensembl
Innerchr2:232397087..232400088hg19UCSC Ensembl
Outerchr2:232396987..232400188hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594627
Supporting Variants
SamplesHG00290
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10876186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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