A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691879



Internal ID15108728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149546457..149554357hg38UCSC Ensembl
Innerchr1:149547457..149554001hg38UCSC Ensembl
chr1:144215895..144224481hg19UCSC Ensembl
Innerchr1:144216895..144223493hg19UCSC Ensembl
Outerchr1:144214895..144224481hg19UCSC Ensembl
chr1:142927252..142935850hg18UCSC Ensembl
Innerchr1:142928252..142934850hg18UCSC Ensembl
Outerchr1:142926252..142936850hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg387901
hg198587
hg188599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3380056
Supporting Variants
SamplesNA19240
Known GenesLOC100288142
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691879
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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