A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665123



Internal ID9931228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4148566..4149211hg38UCSC Ensembl
chr5:4148679..4149324hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6585492, essv5720141, essv6106365, essv6192348, essv5618799, essv6064744, essv5544437, essv5480670, essv5553313, essv5477211, essv5532554, essv6384599, essv6559915, essv5569897, essv5841151, essv5608733, essv6307360, essv6536051, essv6594167
SamplesNA18502, NA18508, NA18489, NA19448, NA19457, NA20287, NA19384, NA19383, NA19917, NA19707, NA19257, NA18523, NA19395, NA18909, NA19108, NA18517, NA19435, NA19360, NA19468
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665123
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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