A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652401



Internal ID15103421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144686663..144687880hg38UCSC Ensembl
Innerchr8:144686663..144687880hg38UCSC Ensembl
Outerchr8:144685936..144688214hg38UCSC Ensembl
chr8:145912048..145913265hg19UCSC Ensembl
Innerchr8:145912048..145913265hg19UCSC Ensembl
Outerchr8:145911321..145913599hg19UCSC Ensembl
chr8:145882856..145884074hg18UCSC Ensembl
Innerchr8:145882856..145884074hg18UCSC Ensembl
Outerchr8:145882129..145884408hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381218
hg191218
hg181219
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3331038
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652401
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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