A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783773



Internal ID10187102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110355510..110355800hg38UCSC Ensembl
Outerchr13:111007857..111008147hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748008, esv2748005
Supporting Variants
SamplesSSM068
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)essv6783773
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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