A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718733



Internal ID9953025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50439330..50440037hg38UCSC Ensembl
Outerchr19:50942587..50943294hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967532, essv6674839, essv6741933, essv6937375, essv6863648, essv6750421, essv6846761, essv6744752, essv6666512
SamplesSSM027, SSM088, SSM021, SSM029, SSM031, SSM085, SSM053, SSM052, SSM056
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)esv2718733
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer