A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738249



Internal ID10321885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:18286433..18286872hg38UCSC Ensembl
Outerchr9:18286431..18286870hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799677, essv6856384, essv6976182, essv6850369, essv6958356, essv6894488, essv6672311, essv6819083, essv6677306, essv6964936, essv6908355, essv6861767
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM032, SSM031, SSM014, SSM086, SSM072, SSM078, 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)esv2738249
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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