A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385945



Internal ID14886228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29159123..29159128hg38UCSC Ensembl
Innerchr22:29159123..29159128hg38UCSC Ensembl
Outerchr22:29159118..29159133hg38UCSC Ensembl
chr22:29555111..29555116hg19UCSC Ensembl
Innerchr22:29555111..29555116hg19UCSC Ensembl
Outerchr22:29555106..29555121hg19UCSC Ensembl
chr22:27885111..27885116hg18UCSC Ensembl
Innerchr22:27885116..27885111hg18UCSC Ensembl
Outerchr22:27885106..27885121hg18UCSC Ensembl
Cytoband22q12.1
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 Variantsessv7866245
SamplesNA12005
Known GenesKREMEN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385945
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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