A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730945



Internal ID14664112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33565594..33565688hg38UCSC Ensembl
Innerchr22:33565640..33565641hg38UCSC Ensembl
Outerchr22:33565494..33565788hg38UCSC Ensembl
chr22:33961580..33961674hg19UCSC Ensembl
Innerchr22:33961626..33961627hg19UCSC Ensembl
Outerchr22:33961480..33961774hg19UCSC Ensembl
chr22:32291580..32291674hg18UCSC Ensembl
Innerchr22:32291627..32291626hg18UCSC Ensembl
Outerchr22:32291480..32291774hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302441
Supporting Variants
SamplesNA19238
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730945
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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