A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738890



Internal ID9973231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:106913585..106914292hg38UCSC Ensembl
Outerchr9:109675866..109676573hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763106, essv6727916, essv6894272, essv6939889, essv6931356, essv6691228
SamplesSSM036, SSM046, SSM062, SSM020, SSM022, SSM098
Known GenesMIR548Q, ZNF462
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)esv2738890
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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