A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7733250



Internal ID12955653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33565658..33565659hg38UCSC Ensembl
Outerchr22:33565506..33565811hg38UCSC Ensembl
Innerchr22:33961644..33961645hg19UCSC Ensembl
Outerchr22:33961492..33961797hg19UCSC Ensembl
Innerchr22:32291645..32291644hg18UCSC Ensembl
Outerchr22:32291492..32291797hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303039
Supporting Variants
SamplesNA12004
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7733250
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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