A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739234



Internal ID10322870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134685230..134685593hg38UCSC Ensembl
Outerchr9:137577076..137577439hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691260, essv6687976
SamplesSSM036, SSM035
Known GenesCOL5A1
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)esv2739234
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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