A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695447



Internal ID13353790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102658469..102662767hg38UCSC Ensembl
Innerchr7:102659469..102661767hg38UCSC Ensembl
Outerchr7:102657469..102663767hg38UCSC Ensembl
chr7:102298916..102303214hg19UCSC Ensembl
Innerchr7:102299916..102302214hg19UCSC Ensembl
Outerchr7:102297916..102304214hg19UCSC Ensembl
chr7:102086152..102090450hg18UCSC Ensembl
Innerchr7:102087152..102089450hg18UCSC Ensembl
Outerchr7:102085152..102091450hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384299
hg194299
hg184299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3332211
Supporting Variants
SamplesNA12891
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695447
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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