A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739129



Internal ID10322765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:132377985..132378294hg38UCSC Ensembl
Outerchr9:135253372..135253681hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6931389, essv6842037, essv6965099
SamplesSSM027, SSM084, SSM020
Known GenesTTF1
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)esv2739129
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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