A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673055



Internal ID9592474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:106977212..106979771hg38UCSC Ensembl
chr9:109739493..109742052hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg382560
hg192560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6254507, essv5859621, essv5640351, essv6577069, essv6377378, essv5993744, essv5499057, essv5500344, essv6322609, essv6517880, essv5508261, essv6545386, essv5539139, essv5744048, essv5781220, essv6117822, essv5685789, essv6115526, essv6536984, essv6130838, essv5430907, essv5986849, essv6035692, essv5771217, essv6443393, essv6429174, essv5409223, essv6212794, essv5453823, essv5531985
SamplesNA19819, NA19404, NA19114, NA19469, NA19334, NA19449, NA19474, NA19982, NA19390, NA19313, NA19377, NA19374, NA19375, NA20348, NA18522, NA19238, NA18510, NA18504, NA19707, NA19131, NA19159, NA19318, NA19376, NA19434, NA19399, NA18924, NA19470, NA19130, NA19346, NA19466
Known GenesMIR548Q, ZNF462
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673055
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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