A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346130



Internal ID15193114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38116160..38116160hg38UCSC Ensembl
Innerchr20:38116159..38116161hg38UCSC Ensembl
Outerchr20:38116100..38116210hg38UCSC Ensembl
chr20:36744562..36744562hg19UCSC Ensembl
Innerchr20:36744561..36744563hg19UCSC Ensembl
Outerchr20:36744502..36744612hg19UCSC Ensembl
chr20:36177976..36177976hg18UCSC Ensembl
Innerchr20:36177977..36177975hg18UCSC Ensembl
Outerchr20:36177916..36178026hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8825612
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346130
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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