A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691872



Internal ID15064852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149513824..149539463hg38UCSC Ensembl
Innerchr1:149514577..149538463hg38UCSC Ensembl
Outerchr1:149510999..149539732hg38UCSC Ensembl
chr1:144179695..144200893hg19UCSC Ensembl
Innerchr1:144180695..144199893hg19UCSC Ensembl
Outerchr1:144178695..144201893hg19UCSC Ensembl
chr1:142891052..142912250hg18UCSC Ensembl
Innerchr1:142892052..142911250hg18UCSC Ensembl
Outerchr1:142890052..142913250hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3825640
hg1921199
hg1821199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3428298
Supporting Variants
SamplesNA19239
Known GenesLOC100288142
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691872
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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