A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408423



Internal ID15255385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26133886..26135184hg38UCSC Ensembl
Innerchr22:26134184..26134886hg38UCSC Ensembl
Outerchr22:26132886..26136184hg38UCSC Ensembl
chr22:26529852..26531150hg19UCSC Ensembl
Innerchr22:26530150..26530852hg19UCSC Ensembl
Outerchr22:26528852..26532150hg19UCSC Ensembl
chr22:24859852..24861150hg18UCSC Ensembl
Innerchr22:24860852..24860150hg18UCSC Ensembl
Outerchr22:24858852..24862150hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693295
SamplesNA19240
Known GenesMIR1302-1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408423
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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