A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376831



Internal ID15223804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44213139..44214437hg38UCSC Ensembl
Innerchr22:44213437..44214139hg38UCSC Ensembl
Outerchr22:44212139..44215437hg38UCSC Ensembl
chr22:44609019..44610317hg19UCSC Ensembl
Innerchr22:44609317..44610019hg19UCSC Ensembl
Outerchr22:44608019..44611317hg19UCSC Ensembl
chr22:42940352..42941650hg18UCSC Ensembl
Innerchr22:42941352..42940650hg18UCSC Ensembl
Outerchr22:42939352..42942650hg18UCSC Ensembl
Cytoband22q13.31
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 Variantsessv8693315
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376831
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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