A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739055



Internal ID10322691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127910659..127915121hg38UCSC Ensembl
Outerchr9:130672938..130677400hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg384463
hg194463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743724
SamplesSSM053
Known GenesST6GALNAC4
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)esv2739055
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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