A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664350



Internal ID9930455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36751297..36751893hg38UCSC Ensembl
chr5:36751399..36751995hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5933287, essv5455282, essv6205981, essv6458703, essv6385079, essv5591113
SamplesNA19332, NA18486, NA19372, NA19403, HG01108, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664350
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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