A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689568



Internal ID15094225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20482785..20505883hg38UCSC Ensembl
Innerchr15:20483785..20504883hg38UCSC Ensembl
Outerchr15:20481785..20506883hg38UCSC Ensembl
chr15:20688038..20711136hg19UCSC Ensembl
Innerchr15:20689038..20710136hg19UCSC Ensembl
Outerchr15:20687038..20712136hg19UCSC Ensembl
chr15:18948052..18971150hg18UCSC Ensembl
Innerchr15:18949052..18970150hg18UCSC Ensembl
Outerchr15:18947052..18972150hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg3823099
hg1923099
hg1823099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3418382
Supporting Variants
SamplesNA19240
Known GenesHERC2P3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689568
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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