A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671030



Internal ID9937135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:15603559..15606406hg38UCSC Ensembl
chr5:15603668..15606515hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5732512, essv6171249, essv6114221
SamplesNA20774, NA12342, NA20544
Known GenesFBXL7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671030
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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