A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718697



Internal ID9952989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49011365..49012395hg38UCSC Ensembl
Outerchr19:49514622..49515652hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937367, essv6717364, essv6750417, essv6766374, essv6738650, essv6913714, essv6941467, essv6925395, essv6756363, essv6971971
SamplesSSM050, SSM058, SSM028, SSM021, SSM018, SSM006, SSM015, SSM022, SSM056, SSM063
Known GenesRUVBL2
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)esv2718697
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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