A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6922285



Internal ID9688319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14136717..14137333hg38UCSC Ensembl
Outerchr3:14178217..14178833hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38617
hg19617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724945, esv2724951, esv2724948
Supporting Variants
SamplesSSM018
Known GenesTMEM43
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)essv6922285
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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