A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718734



Internal ID9953026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50439417..50439755hg38UCSC Ensembl
Outerchr19:50942674..50943012hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967532, essv6674839, essv6863648
SamplesSSM027, SSM088, SSM031
Known GenesMYBPC2
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)esv2718734
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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