A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702657



Internal ID9767758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99669868..100007225hg38UCSC Ensembl
Outerchr13:100322122..100659479hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38337358
hg19337358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747875
Supporting Variants
SamplesSSM039
Known GenesCLYBL, LINC00554, ZIC2, ZIC5
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)essv6702657
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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