A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866258



Internal ID13318331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43353841..43353855hg38UCSC Ensembl
Innerchr22:43353843..43353853hg38UCSC Ensembl
Outerchr22:43353839..43353857hg38UCSC Ensembl
chr22:43749847..43749861hg19UCSC Ensembl
Innerchr22:43749849..43749859hg19UCSC Ensembl
Outerchr22:43749845..43749863hg19UCSC Ensembl
chr22:42079791..42079805hg18UCSC Ensembl
Innerchr22:42079793..42079803hg18UCSC Ensembl
Outerchr22:42079789..42079807hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429439
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866258
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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