A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689688



Internal ID15019453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22520787..22524185hg38UCSC Ensembl
Innerchr15:22521787..22523185hg38UCSC Ensembl
Outerchr15:22519787..22525185hg38UCSC Ensembl
chr15:23348911..23352309hg19UCSC Ensembl
Innerchr15:23349911..23351309hg19UCSC Ensembl
Outerchr15:23347911..23353309hg19UCSC Ensembl
chr15:20900352..20903750hg18UCSC Ensembl
Innerchr15:20901352..20902750hg18UCSC Ensembl
Outerchr15:20899352..20904750hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382628
Supporting Variants
SamplesNA19238
Known GenesHERC2P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689688
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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