A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652178



Internal ID14755496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50276254..50276435hg38UCSC Ensembl
Innerchr22:50276254..50276435hg38UCSC Ensembl
Outerchr22:50275242..50278526hg38UCSC Ensembl
chr22:50714683..50714864hg19UCSC Ensembl
Innerchr22:50714683..50714864hg19UCSC Ensembl
Outerchr22:50713671..50716955hg19UCSC Ensembl
chr22:49056810..49056991hg18UCSC Ensembl
Innerchr22:49056810..49056991hg18UCSC Ensembl
Outerchr22:49055798..49059082hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38182
hg19182
hg18182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3452071
Supporting Variants
SamplesNA19240
Known GenesPLXNB2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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