A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738373



Internal ID10322009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:33251985..33252282hg38UCSC Ensembl
Outerchr9:33251983..33252280hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850394, essv6958383, essv6856412, essv6861782, essv6866512, essv6827200, essv6908370, essv6672338, essv6884762, essv6976207, essv6823148, essv6964960
SamplesSSM027, SSM079, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM014, SSM086, SSM080, SSM095
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)esv2738373
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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