A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383354



Internal ID14883630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102663369..102671667hg38UCSC Ensembl
Innerchr7:102664369..102670667hg38UCSC Ensembl
Outerchr7:102662369..102672667hg38UCSC Ensembl
chr7:102303816..102312114hg19UCSC Ensembl
Innerchr7:102304816..102311114hg19UCSC Ensembl
Outerchr7:102302816..102313114hg19UCSC Ensembl
chr7:102091052..102099350hg18UCSC Ensembl
Innerchr7:102092052..102098350hg18UCSC Ensembl
Outerchr7:102090052..102100350hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388299
hg198299
hg188299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3907e59
Supporting Variantsessv8695451
SamplesNA19238
Known GenesPOLR2J2, POLR2J3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383354
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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