A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880418



Internal ID9929173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15468474..15488142hg38UCSC Ensembl
Outerchr1:15794969..15814637hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819669
hg1919669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744319
Supporting Variants
SamplesSSM094
Known GenesCELA2A, CELA2B
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)essv6880418
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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