A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669040



Internal ID9588459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102558704..102560293hg38UCSC Ensembl
chr8:103570932..103572521hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6420379, essv6228552, essv6159394, essv6377905, essv5562920, essv5810652, essv5501598, essv5840605, essv5520246, essv5454503, essv6373991, essv5561731, essv5558163, essv6277105, essv6549630, essv5861298, essv6469204, essv6243845, essv6532648, essv5457494, essv5810569, essv6468078, essv6221004
SamplesNA19397, NA19909, NA18861, NA19396, NA19381, NA19319, NA19382, NA18489, NA19457, NA18874, NA18868, NA19471, NA19403, NA19347, NA18856, NA19375, NA19440, NA19712, HG00734, NA19376, NA19430, NA18505, NA19463
Known GenesODF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669040
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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