A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8941912



Internal ID13468364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111895702..111895738hg38UCSC Ensembl
Innerchr8:111895717..111895720hg38UCSC Ensembl
Outerchr8:111895684..111895756hg38UCSC Ensembl
chr8:112907931..112907967hg19UCSC Ensembl
Innerchr8:112907946..112907949hg19UCSC Ensembl
Outerchr8:112907913..112907985hg19UCSC Ensembl
chr8:112977107..112977143hg18UCSC Ensembl
Innerchr8:112977125..112977122hg18UCSC Ensembl
Outerchr8:112977089..112977161hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3437223
Supporting Variants
SamplesNA12489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8941912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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