A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732103



Internal ID10315739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54905063..54905157hg38UCSC Ensembl
Outerchr6:54769861..54769955hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671137
SamplesSSM031
Known GenesFAM83B
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)esv2732103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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