A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214103



Internal ID498113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65432560..65439784hg38UCSC Ensembl
Innerchr8:65433060..65439284hg38UCSC Ensembl
Outerchr8:65431560..65440784hg38UCSC Ensembl
chr8:66344795..66352019hg19UCSC Ensembl
Innerchr8:66345295..66351519hg19UCSC Ensembl
Outerchr8:66343795..66353019hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg387225
hg197225
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617462
Supporting Variants
SamplesHG00177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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