A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661216



Internal ID9580635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17401467..17407035hg38UCSC Ensembl
chr9:17401465..17407033hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg385569
hg195569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6079542, essv6544543, essv6313648, essv5832393, essv6010598, essv5823605, essv6483216, essv6071579, essv6332814, essv5847874, essv6013136, essv6406177, essv6352487, essv5935934
SamplesHG00734, NA19430, NA19338, HG01107, NA19440, NA19247, NA19395, NA19373, NA18858, NA19235, NA18907, NA19446, NA19346, HG00136
Known GenesCNTLN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661216
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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