A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931990



Internal ID9692775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29492001..29492429hg38UCSC Ensembl
Outerchr13:30066138..30066566hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747207
Supporting Variants
SamplesSSM020
Known GenesMTUS2
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)essv6931990
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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