A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693074



Internal ID13684029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18777339..18778537hg38UCSC Ensembl
Innerchr22:18777537..18778339hg38UCSC Ensembl
Outerchr22:18776339..18779537hg38UCSC Ensembl
chr22:18764852..18766050hg19UCSC Ensembl
Innerchr22:18765050..18765852hg19UCSC Ensembl
Outerchr22:18763852..18767050hg19UCSC Ensembl
chr22:17144852..17146050hg18UCSC Ensembl
Innerchr22:17145852..17145050hg18UCSC Ensembl
Outerchr22:17143852..17147050hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328287
Supporting Variants
SamplesNA12878
Known GenesGGT3P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693074
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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