A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692422



Internal ID15067552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:969109..970007hg38UCSC Ensembl
Innerchr1:969108..970008hg38UCSC Ensembl
Outerchr1:968109..971007hg38UCSC Ensembl
chr1:904489..905387hg19UCSC Ensembl
Innerchr1:904488..905388hg19UCSC Ensembl
Outerchr1:903489..906387hg19UCSC Ensembl
chr1:894352..895250hg18UCSC Ensembl
Innerchr1:895251..894351hg18UCSC Ensembl
Outerchr1:893352..896250hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451859
Supporting Variants
SamplesNA19239
Known GenesPLEKHN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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