A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696179



Internal ID15056725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134850927..134852425hg38UCSC Ensembl
Innerchr8:134851425..134851927hg38UCSC Ensembl
Outerchr8:134849927..134853425hg38UCSC Ensembl
chr8:135863170..135864668hg19UCSC Ensembl
Innerchr8:135863668..135864170hg19UCSC Ensembl
Outerchr8:135862170..135865668hg19UCSC Ensembl
chr8:135932352..135933850hg18UCSC Ensembl
Innerchr8:135933352..135932850hg18UCSC Ensembl
Outerchr8:135931352..135934850hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398773
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696179
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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