A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692158



Internal ID14684863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22577672..22580170hg38UCSC Ensembl
Innerchr1:22578672..22579170hg38UCSC Ensembl
Outerchr1:22576672..22581170hg38UCSC Ensembl
chr1:22904165..22906663hg19UCSC Ensembl
Innerchr1:22905165..22905663hg19UCSC Ensembl
Outerchr1:22903165..22907663hg19UCSC Ensembl
chr1:22776752..22779250hg18UCSC Ensembl
Innerchr1:22777752..22778250hg18UCSC Ensembl
Outerchr1:22775752..22780250hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3437457
Supporting Variants
SamplesNA19238
Known GenesEPHA8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692158
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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