A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6806485



Internal ID9862287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43470216..43470400hg38UCSC Ensembl
Outerchr13:44044352..44044536hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747324
Supporting Variants
SamplesSSM074
Known GenesENOX1
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)essv6806485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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