A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738783



Internal ID10322419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93451292..93451466hg38UCSC Ensembl
Outerchr9:96213574..96213748hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802254, essv6672423
SamplesSSM009, SSM031
Known GenesFAM120AOS
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)esv2738783
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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