A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385422



Internal ID15232392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9170250..9170914hg38UCSC Ensembl
Innerchr1:9170250..9170914hg38UCSC Ensembl
Outerchr1:9170073..9170978hg38UCSC Ensembl
chr1:9230309..9230973hg19UCSC Ensembl
Innerchr1:9230309..9230973hg19UCSC Ensembl
Outerchr1:9230132..9231037hg19UCSC Ensembl
chr1:9152896..9153560hg18UCSC Ensembl
Innerchr1:9152896..9153560hg18UCSC Ensembl
Outerchr1:9152719..9153624hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38665
hg19665
hg18665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652100
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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