A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322158



Internal ID14822439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102642369..102645667hg38UCSC Ensembl
Innerchr7:102643369..102644667hg38UCSC Ensembl
Outerchr7:102641369..102646667hg38UCSC Ensembl
chr7:102282816..102286114hg19UCSC Ensembl
Innerchr7:102283816..102285114hg19UCSC Ensembl
Outerchr7:102281816..102287114hg19UCSC Ensembl
chr7:102070052..102073350hg18UCSC Ensembl
Innerchr7:102071052..102072350hg18UCSC Ensembl
Outerchr7:102069052..102074350hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695443
SamplesNA12891
Known GenesPOLR2J2, POLR2J3, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322158
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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