A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731599



Internal ID3282095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13139657..13140291hg38UCSC Ensembl
Outerchr6:13139889..13140523hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805334
SamplesSSM074
Known GenesPHACTR1
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)esv2731599
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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