A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739209



Internal ID9973550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134422385..134422842hg38UCSC Ensembl
Outerchr9:137314231..137314688hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712651, essv6702026, essv6894303, essv6716357
SamplesSSM039, SSM042, SSM043, SSM098
Known GenesRXRA
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)esv2739209
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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