A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438171



Internal ID15285124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46105390..46105420hg38UCSC Ensembl
Innerchr22:46105404..46105404hg38UCSC Ensembl
Outerchr22:46105376..46105434hg38UCSC Ensembl
chr22:46501270..46501300hg19UCSC Ensembl
Innerchr22:46501284..46501284hg19UCSC Ensembl
Outerchr22:46501256..46501314hg19UCSC Ensembl
chr22:44879934..44879964hg18UCSC Ensembl
Innerchr22:44879948..44879948hg18UCSC Ensembl
Outerchr22:44879920..44879978hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38149
hg19149
hg18149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8977855, essv8977854, essv8977856
SamplesNA18504, NA19190, NA18870
Known GenesMIRLET7BHG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438171
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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