A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422172



Internal ID14922444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:92020830..92020830hg38UCSC Ensembl
Innerchr10:92020829..92020831hg38UCSC Ensembl
Outerchr10:92020770..92020880hg38UCSC Ensembl
chr10:93780587..93780587hg19UCSC Ensembl
Innerchr10:93780586..93780588hg19UCSC Ensembl
Outerchr10:93780527..93780637hg19UCSC Ensembl
chr10:93770567..93770567hg18UCSC Ensembl
Innerchr10:93770568..93770566hg18UCSC Ensembl
Outerchr10:93770507..93770617hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8810942
SamplesNA12878
Known GenesBTAF1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422172
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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