A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696278



Internal ID15057156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22634994..22639092hg38UCSC Ensembl
Innerchr8:22635994..22638092hg38UCSC Ensembl
Outerchr8:22633994..22640092hg38UCSC Ensembl
chr8:22492507..22496605hg19UCSC Ensembl
Innerchr8:22493507..22495605hg19UCSC Ensembl
Outerchr8:22491507..22497605hg19UCSC Ensembl
chr8:22548452..22552550hg18UCSC Ensembl
Innerchr8:22549452..22551550hg18UCSC Ensembl
Outerchr8:22547452..22553550hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386084
Supporting Variants
SamplesNA19239
Known GenesBIN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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