A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664923



Internal ID9931028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58552234..58552502hg38UCSC Ensembl
chr1:59017906..59018174hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5990406, essv5886999, essv6178360, essv6550731, essv5414076, essv6218822, essv6041866, essv6079643, essv5864467, essv6394812, essv6026339, essv5879682, essv5542247, essv6090327, essv5927223, essv5492952, essv5775126, essv6258834, essv5653968, essv5849429, essv5464676, essv6320709, essv5722271, essv6425035, essv5539885, essv5671083, essv6183754, essv5878291, essv6355663, essv6431366, essv6507261, essv5458728, essv6523868
SamplesHG01173, NA19700, HG00249, HG01359, HG01052, NA19819, NA19920, NA19396, HG00272, HG01492, HG00185, NA19130, NA19404, HG01069, NA19372, HG01133, HG00133, HG01171, HG00282, HG01095, HG00344, NA18910, HG00250, NA19625, NA19834, NA19428, HG01108, NA19818, HG00111, HG00329, HG00343, HG01378, HG01437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664923
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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