A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385024



Internal ID15231994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44514716..44514744hg38UCSC Ensembl
Innerchr22:44514673..44514787hg38UCSC Ensembl
Outerchr22:44514645..44514815hg38UCSC Ensembl
chr22:44910596..44910624hg19UCSC Ensembl
Innerchr22:44910553..44910667hg19UCSC Ensembl
Outerchr22:44910525..44910695hg19UCSC Ensembl
chr22:43289260..43289288hg18UCSC Ensembl
Innerchr22:43289331..43289217hg18UCSC Ensembl
Outerchr22:43289189..43289359hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866260
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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