A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712388



Internal ID9996485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106569845..106570891hg38UCSC Ensembl
Outerchr13:107222193..107223239hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747956
Supporting Variants
SamplesSSM006
Known Genes
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)essv6712388
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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