A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302757



Internal ID14803019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15618162..15620550hg38UCSC Ensembl
Innerchr1:15618262..15620450hg38UCSC Ensembl
Outerchr1:15618062..15620650hg38UCSC Ensembl
chr1:15944657..15947045hg19UCSC Ensembl
Innerchr1:15944757..15946945hg19UCSC Ensembl
Outerchr1:15944557..15947145hg19UCSC Ensembl
chr1:15817244..15819632hg18UCSC Ensembl
Innerchr1:15817344..15819532hg18UCSC Ensembl
Outerchr1:15817144..15819732hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382389
hg192389
hg182389
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7733047
SamplesNA18501
Known GenesDDI2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302757
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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