A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678548



Internal ID9944653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:65305702..65309177hg38UCSC Ensembl
chr15:65598040..65601515hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg383476
hg193476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5537527, essv6335293, essv5465436
SamplesHG01359, NA20813, HG00267
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678548
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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