A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716784



Internal ID10300420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119471494..119583761hg38UCSC Ensembl
Outerchr1:120014117..120126384hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38112268
hg19112268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696353, essv6864072
SamplesSSM089, SSM006
Known GenesHSD3B1, HSD3BP4
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)esv2716784
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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