A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718837



Internal ID9953129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53714309..53742921hg38UCSC Ensembl
Outerchr19:54217563..54246175hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3828613
hg1928613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814965, essv6744768, essv6961072, essv6832334, essv6883101, essv6782221, essv6917182, essv6898423, essv6877482
SamplesSSM092, SSM053, SSM099, SSM016, SSM094, SSM009, SSM026, SSM008, SSM081
Known GenesMIR516B1, MIR516B2, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518D, MIR518E, MIR520D, MIR520G, MIR520H, MIR521-2, MIR526A2
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)esv2718837
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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