A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961072



Internal ID9716621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53714385..53735671hg38UCSC Ensembl
Outerchr19:54217639..54238925hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3821287
hg1921287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718837, esv2718833, esv2718812
Supporting Variants
SamplesSSM026
Known GenesMIR516B2, MIR517B, MIR518A1, MIR518D, MIR518E, MIR520D, MIR520G, 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)essv6961072
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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