A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693313



Internal ID15035467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43737139..43739037hg38UCSC Ensembl
Innerchr22:43738037..43738139hg38UCSC Ensembl
Outerchr22:43736139..43740037hg38UCSC Ensembl
chr22:44133019..44134917hg19UCSC Ensembl
Innerchr22:44133917..44134019hg19UCSC Ensembl
Outerchr22:44132019..44135917hg19UCSC Ensembl
chr22:42464352..42466250hg18UCSC Ensembl
Innerchr22:42465352..42465250hg18UCSC Ensembl
Outerchr22:42463352..42467250hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369339
Supporting Variants
SamplesNA19238
Known GenesEFCAB6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693313
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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