A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747267



Internal ID10328237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36244677..36244845hg38UCSC Ensembl
Outerchr13:36818814..36818982hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806477
SamplesSSM074
Known GenesCCDC169, CCDC169-SOHLH2
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)esv2747267
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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