A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670518



Internal ID9936623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79432059..79432524hg38UCSC Ensembl
chr1:79897744..79898209hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5499792, essv6472519, essv5443732, essv6423077, essv5485345, essv6110328, essv5569651, essv5841854, essv5943251, essv5515241, essv5531769, essv6086387, essv6210046, essv6024033, essv5601943, essv6495493, essv6313967, essv5796528, essv6256949, essv5916224, essv5885471, essv5640417, essv5721104, essv5802672, essv6138479, essv5580922, essv5986373, essv5824769, essv5871219, essv6282154, essv5772297, essv5723190, essv6259475, essv5901763, essv5526228, essv5981913, essv6280559, essv5736338, essv5444907, essv5427710, essv5614763, essv5827163, essv6526030
SamplesNA19397, NA18861, HG00257, HG00306, NA20294, HG00177, HG01461, NA18526, HG00261, NA18563, HG00122, NA19119, NA19131, NA18916, NA07347, NA19457, NA19172, NA19471, NA20818, NA19210, HG00145, NA18871, NA19114, NA12249, HG01383, HG00141, NA18570, NA20542, NA20799, HG00124, NA18909, HG00336, NA19834, NA18564, HG00353, HG00116, NA06986, NA20341, NA18501, NA20786, NA18873, NA18488, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670518
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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