A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689799



Internal ID14674733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75285458..75288256hg38UCSC Ensembl
Innerchr15:75286458..75287256hg38UCSC Ensembl
Outerchr15:75284458..75289256hg38UCSC Ensembl
chr15:75577799..75580597hg19UCSC Ensembl
Innerchr15:75578799..75579597hg19UCSC Ensembl
Outerchr15:75576799..75581597hg19UCSC Ensembl
chr15:73364852..73367650hg18UCSC Ensembl
Innerchr15:73365852..73366650hg18UCSC Ensembl
Outerchr15:73363852..73368650hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416661
Supporting Variants
SamplesNA19238
Known GenesGOLGA6D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689799
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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