A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374778



Internal ID15221753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21279969..21280012hg38UCSC Ensembl
Innerchr7:21279984..21279997hg38UCSC Ensembl
Outerchr7:21279941..21280040hg38UCSC Ensembl
chr7:21319587..21319630hg19UCSC Ensembl
Innerchr7:21319602..21319615hg19UCSC Ensembl
Outerchr7:21319559..21319658hg19UCSC Ensembl
chr7:21286112..21286155hg18UCSC Ensembl
Innerchr7:21286140..21286127hg18UCSC Ensembl
Outerchr7:21286084..21286183hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8934898, essv8934897, essv8934893, essv8934896, essv8934900, essv8934895, essv8934899, essv8934894
SamplesNA18947, NA18916, NA18949, NA18858, NA18945, NA19108, NA18943, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374778
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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