A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343524



Internal ID14843792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102646169..102655667hg38UCSC Ensembl
Innerchr7:102647169..102654667hg38UCSC Ensembl
Outerchr7:102645169..102656667hg38UCSC Ensembl
chr7:102286616..102296114hg19UCSC Ensembl
Innerchr7:102287616..102295114hg19UCSC Ensembl
Outerchr7:102285616..102297114hg19UCSC Ensembl
chr7:102073852..102083350hg18UCSC Ensembl
Innerchr7:102074852..102082350hg18UCSC Ensembl
Outerchr7:102072852..102084350hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389499
hg199499
hg189499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695444
SamplesNA12891
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343524
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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