A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674338



Internal ID9940443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80016317..80029123hg38UCSC Ensembl
Outerchr17:80015946..80029493hg38UCSC Ensembl
Innerchr17:77990116..78002922hg19UCSC Ensembl
Outerchr17:77989745..78003292hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3813548
hg1913548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv572e199
Supporting Variantsessv5647170, essv5454768, essv6568740, essv5472217, essv5757884, essv6157151, essv5478786, essv6587264, essv6121296, essv5662840, essv6068345, essv6113049, essv5742050, essv5540716, essv5693207, essv5942517
SamplesNA19397, NA19374, NA19396, NA19379, NA19403, NA19462, NA19347, NA19338, NA19452, NA19395, NA19334, NA19376, NA19398, NA19328, NA19474, NA19346
Known GenesTBC1D16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674338
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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