A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6821335



Internal ID9875997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204471150..204471652hg38UCSC Ensembl
Outerchr1:204440278..204440780hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721851, esv2721873
Supporting Variants
SamplesSSM079
Known GenesPIK3C2B
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)essv6821335
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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