A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809046



Internal ID13647930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41939806..41939896hg38UCSC Ensembl
Innerchr22:41939805..41939897hg38UCSC Ensembl
Outerchr22:41939696..41940016hg38UCSC Ensembl
chr22:42335810..42335900hg19UCSC Ensembl
Innerchr22:42335809..42335901hg19UCSC Ensembl
Outerchr22:42335700..42336020hg19UCSC Ensembl
chr22:40665756..40665846hg18UCSC Ensembl
Innerchr22:40665847..40665755hg18UCSC Ensembl
Outerchr22:40665646..40665966hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401962
Supporting Variants
SamplesNA12878
Known GenesCENPM
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809046
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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