A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781988



Internal ID9656102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50292383..50292758hg38UCSC Ensembl
Outerchr19:50795640..50796015hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718727, esv2718730
Supporting Variants
SamplesSSM008
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)essv6781988
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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