A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831966



Internal ID10006470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132421352..132421875hg38UCSC Ensembl
Outerchr9:135296739..135297262hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739131
Supporting Variants
SamplesSSM010
Known GenesC9orf171
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)essv6831966
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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