A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850054



Internal ID10008940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195614793..195720926hg38UCSC Ensembl
Outerchr3:195341664..195447797hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38106134
hg19106134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726477
Supporting Variants
SamplesSSM011
Known GenesMIR570, MUC20, SDHAP2
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)essv6850054
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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