A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674196



Internal ID9940301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12684651..12759016hg38UCSC Ensembl
chr5:12684763..12759128hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3874366
hg1974366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5887492, essv5484969
SamplesNA19377, NA19625
Known GenesCT49
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674196
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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