A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808975



Internal ID13294814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69915905..69916249hg38UCSC Ensembl
Innerchr1:69915904..69916250hg38UCSC Ensembl
Outerchr1:69915795..69916369hg38UCSC Ensembl
chr1:70381588..70381932hg19UCSC Ensembl
Innerchr1:70381587..70381933hg19UCSC Ensembl
Outerchr1:70381478..70382052hg19UCSC Ensembl
chr1:70154176..70154520hg18UCSC Ensembl
Innerchr1:70154521..70154175hg18UCSC Ensembl
Outerchr1:70154066..70154640hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3452085
Supporting Variants
SamplesNA12878
Known GenesLRRC7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808975
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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