A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13285045



Internal ID2267138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109352326..109353707hg38UCSC Ensembl
Innerchr8:109352330..109353704hg38UCSC Ensembl
Outerchr8:109352323..109353711hg38UCSC Ensembl
chr8:110364555..110365936hg19UCSC Ensembl
Innerchr8:110364559..110365933hg19UCSC Ensembl
Outerchr8:110364552..110365940hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381382
hg191382
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618374
Supporting Variants
SamplesHG02026
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13285045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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