A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674979



Internal ID9941084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128441113..128442551hg38UCSC Ensembl
Outerchr5:128440956..128442704hg38UCSC Ensembl
Innerchr5:127776806..127778244hg19UCSC Ensembl
Outerchr5:127776649..127778397hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381749
hg191749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5885078, essv6275957, essv6144703
SamplesNA19397, NA19238, NA19376
Known GenesFBN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674979
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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