A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738248



Internal ID10321884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:18286043..18287087hg38UCSC Ensembl
Outerchr9:18286041..18287085hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734859, essv6799677, essv6856384, essv6976182, essv6850369, essv6958356, essv6737516, essv6894488, essv6672311, essv6819083, essv6677306, essv6964936, essv6908355, essv6861767
SamplesSSM027, SSM087, SSM050, SSM088, SSM029, SSM026, SSM032, SSM031, SSM014, SSM086, SSM072, SSM078, SSM049, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2738248
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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