A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674518



Internal ID9940623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:123055181..123056229hg38UCSC Ensembl
chr10:124814697..124815745hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5876140, essv5446480
SamplesNA19172, NA18516
Known GenesACADSB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674518
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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