A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925400



Internal ID9687081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50292332..50292714hg38UCSC Ensembl
Outerchr19:50795589..50795971hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718727
Supporting Variants
SamplesSSM018
Known GenesMYH14
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)essv6925400
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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