A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772280



Internal ID10178962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110480921..110481132hg38UCSC Ensembl
Outerchr13:111133268..111133479hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748025
Supporting Variants
SamplesSSM065
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)essv6772280
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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