A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677243



Internal ID9943348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108223721..108225927hg38UCSC Ensembl
chr8:109235950..109238156hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg382207
hg192207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5715258, essv5666688, essv5570788, essv5726106, essv6083380, essv6521378, essv6302794, essv5866000, essv5832089, essv6133914, essv5965310, essv6535051, essv5537147, essv5632342, essv5678871, essv5858776, essv5664048, essv5550936, essv6263561, essv6450118, essv5463350, essv6277110, essv6040006, essv5680576, essv6257439
SamplesNA19703, HG01389, NA18486, NA19355, NA20332, NA19379, NA18519, NA19457, NA19159, NA19239, NA19445, NA18908, NA19982, NA18907, NA19453, NA18912, NA19625, NA18858, NA19435, NA19240, HG01342, NA19376, NA19438, NA19468, NA18511
Known GenesEIF3E
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677243
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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