A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689690



Internal ID15020583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22515887..22519985hg38UCSC Ensembl
Innerchr15:22516887..22518985hg38UCSC Ensembl
Outerchr15:22514887..22520985hg38UCSC Ensembl
chr15:23353111..23357209hg19UCSC Ensembl
Innerchr15:23354111..23356209hg19UCSC Ensembl
Outerchr15:23352111..23358209hg19UCSC Ensembl
chr15:20904552..20908650hg18UCSC Ensembl
Innerchr15:20905552..20907650hg18UCSC Ensembl
Outerchr15:20903552..20909650hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436656
Supporting Variants
SamplesNA19238
Known GenesHERC2P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689690
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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