A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447073



Internal ID14947337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19076725..19076752hg38UCSC Ensembl
Innerchr22:19076690..19076787hg38UCSC Ensembl
Outerchr22:19076663..19076814hg38UCSC Ensembl
chr22:19064238..19064265hg19UCSC Ensembl
Innerchr22:19064203..19064300hg19UCSC Ensembl
Outerchr22:19064176..19064327hg19UCSC Ensembl
chr22:17444238..17444265hg18UCSC Ensembl
Innerchr22:17444300..17444203hg18UCSC Ensembl
Outerchr22:17444176..17444327hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866232, essv7866233
SamplesNA18522, NA11992
Known GenesDGCR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447073
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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