A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739236



Internal ID10322872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134707396..134707657hg38UCSC Ensembl
Outerchr9:137599242..137599503hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1272e201
Supporting Variantsessv6931400, essv6923899
SamplesSSM018, SSM020
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)esv2739236
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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