A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816742



Internal ID9875610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168055436..168056161hg38UCSC Ensembl
Outerchr1:168024674..168025399hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719228
Supporting Variants
SamplesSSM078
Known GenesDCAF6
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)essv6816742
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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