A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306375



Internal ID15153323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60700572..60700573hg38UCSC Ensembl
Innerchr15:60700526..60700619hg38UCSC Ensembl
Outerchr15:60700525..60700620hg38UCSC Ensembl
chr15:60992771..60992772hg19UCSC Ensembl
Innerchr15:60992725..60992818hg19UCSC Ensembl
Outerchr15:60992724..60992819hg19UCSC Ensembl
chr15:58780063..58780064hg18UCSC Ensembl
Innerchr15:58780110..58780017hg18UCSC Ensembl
Outerchr15:58780016..58780111hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760359, essv7751173, essv7755977
SamplesNA19102, NA19116, NA18965
Known GenesRORA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306375
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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