A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377591



Internal ID14877857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102658869..102661167hg38UCSC Ensembl
Innerchr7:102659869..102660167hg38UCSC Ensembl
Outerchr7:102657869..102662167hg38UCSC Ensembl
chr7:102299316..102301614hg19UCSC Ensembl
Innerchr7:102300316..102300614hg19UCSC Ensembl
Outerchr7:102298316..102302614hg19UCSC Ensembl
chr7:102086552..102088850hg18UCSC Ensembl
Innerchr7:102087552..102087850hg18UCSC Ensembl
Outerchr7:102085552..102089850hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695448
SamplesNA12892
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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