A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827942



Internal ID10228630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110408829..110409005hg38UCSC Ensembl
Outerchr13:111061176..111061352hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748015, esv2748014
Supporting Variants
SamplesSSM080
Known GenesCOL4A2
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)essv6827942
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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