A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718202



Internal ID9952493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13389844..13391921hg38UCSC Ensembl
Outerchr19:13500658..13502735hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816301
SamplesSSM077
Known GenesCACNA1A
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)esv2718202
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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