A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446151



Internal ID14946415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46217006..46218804hg38UCSC Ensembl
Innerchr20:46217804..46218006hg38UCSC Ensembl
Outerchr20:46216006..46219804hg38UCSC Ensembl
chr20:44845645..44847443hg19UCSC Ensembl
Innerchr20:44846443..44846645hg19UCSC Ensembl
Outerchr20:44844645..44848443hg19UCSC Ensembl
chr20:44279052..44280850hg18UCSC Ensembl
Innerchr20:44280052..44279850hg18UCSC Ensembl
Outerchr20:44278052..44281850hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692551
SamplesNA19240
Known GenesCDH22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446151
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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