A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678343



Internal ID9944448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24820390..24839871hg38UCSC Ensembl
chr15:25065537..25085018hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3819482
hg1919482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6142723, essv5901492
SamplesNA19172, NA19248
Known GenesSNRPN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678343
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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