A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674837



Internal ID9742121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50292456..50292577hg38UCSC Ensembl
Outerchr19:50795713..50795834hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718727, esv2718731, esv2718730
Supporting Variants
SamplesSSM031
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)essv6674837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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