A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726036



Internal ID9960342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149092060..149093654hg38UCSC Ensembl
Outerchr3:148809847..148811441hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686670, essv6798125
SamplesSSM035, SSM072
Known GenesHLTF-AS1
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)esv2726036
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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