A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689791



Internal ID13355980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75255658..75295256hg38UCSC Ensembl
Innerchr15:75256658..75294256hg38UCSC Ensembl
Outerchr15:75254658..75296256hg38UCSC Ensembl
chr15:75547999..75587597hg19UCSC Ensembl
Innerchr15:75548999..75586597hg19UCSC Ensembl
Outerchr15:75546999..75588597hg19UCSC Ensembl
chr15:73335052..73374650hg18UCSC Ensembl
Innerchr15:73336052..73373650hg18UCSC Ensembl
Outerchr15:73334052..73375650hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3839599
hg1939599
hg1839599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3364343
Supporting Variants
SamplesNA12891
Known GenesGOLGA6C, GOLGA6D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689791
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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