A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812318



Internal ID10215226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35864282..35864574hg38UCSC Ensembl
Outerchr13:36438419..36438711hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747262
Supporting Variants
SamplesSSM076
Known GenesDCLK1, MIR548F5
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)essv6812318
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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