A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738550



Internal ID3289046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:72700402..72700969hg38UCSC Ensembl
Outerchr9:75315318..75315885hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740656, essv6935029
SamplesSSM003, SSM052
Known GenesTMC1
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)esv2738550
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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