A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796240



Internal ID10199546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110456809..110457042hg38UCSC Ensembl
Outerchr13:111109156..111109389hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748022, esv2748021
Supporting Variants
SamplesSSM071
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)essv6796240
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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