A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695449



Internal ID13299814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102662269..102671367hg38UCSC Ensembl
Innerchr7:102663269..102670367hg38UCSC Ensembl
Outerchr7:102661269..102672367hg38UCSC Ensembl
chr7:102302716..102311814hg19UCSC Ensembl
Innerchr7:102303716..102310814hg19UCSC Ensembl
Outerchr7:102301716..102312814hg19UCSC Ensembl
chr7:102089952..102099050hg18UCSC Ensembl
Innerchr7:102090952..102098050hg18UCSC Ensembl
Outerchr7:102088952..102100050hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg389099
hg199099
hg189099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446961
Supporting Variants
SamplesNA12878
Known GenesPOLR2J2, POLR2J3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695449
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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