A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302441



Internal ID14802702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33565593..33565688hg38UCSC Ensembl
Innerchr22:33565640..33565640hg38UCSC Ensembl
Outerchr22:33565493..33565788hg38UCSC Ensembl
chr22:33961579..33961674hg19UCSC Ensembl
Innerchr22:33961626..33961626hg19UCSC Ensembl
Outerchr22:33961479..33961774hg19UCSC Ensembl
chr22:32291579..32291674hg18UCSC Ensembl
Innerchr22:32291626..32291626hg18UCSC Ensembl
Outerchr22:32291479..32291774hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2610e59
Supporting Variantsessv7731440, essv7731147, essv7730945, essv7731051
SamplesNA12891, NA19238, NA12878, NA12892
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302441
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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