A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7733047



Internal ID13436407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15618263..15620450hg38UCSC Ensembl
Outerchr1:15618063..15620650hg38UCSC Ensembl
Innerchr1:15944758..15946945hg19UCSC Ensembl
Outerchr1:15944558..15947145hg19UCSC Ensembl
Innerchr1:15817345..15819532hg18UCSC Ensembl
Outerchr1:15817145..15819732hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382588
hg192588
hg182588
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302757
Supporting Variants
SamplesNA18501
Known GenesDDI2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7733047
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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