A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692313



Internal ID15067041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36454164..36456062hg38UCSC Ensembl
Innerchr1:36455062..36455164hg38UCSC Ensembl
Outerchr1:36453164..36457062hg38UCSC Ensembl
chr1:36919765..36921663hg19UCSC Ensembl
Innerchr1:36920663..36920765hg19UCSC Ensembl
Outerchr1:36918765..36922663hg19UCSC Ensembl
chr1:36692352..36694250hg18UCSC Ensembl
Innerchr1:36693352..36693250hg18UCSC Ensembl
Outerchr1:36691352..36695250hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365853
Supporting Variants
SamplesNA19239
Known GenesMRPS15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692313
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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