A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872208



Internal ID10268470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149245584..149251839hg38UCSC Ensembl
Outerchr3:148963371..148969626hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg386256
hg196256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726039
Supporting Variants
SamplesSSM091
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)essv6872208
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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