A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755977



Internal ID14838720
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 StatusS
Merged Variantsesv3306375
Supporting Variants
SamplesNA19102
Known GenesRORA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755977
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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