A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738943



Internal ID10322579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111887337..111887478hg38UCSC Ensembl
Outerchr9:114649617..114649758hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944429, essv6850507
SamplesSSM023, SSM086
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)esv2738943
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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