A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718472



Internal ID3268968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33505315..33506328hg38UCSC Ensembl
Outerchr19:33996221..33997234hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666844, essv6738631, essv6841786, essv6820896, essv6928798, essv6917124
SamplesSSM010, SSM078, SSM016, SSM050, SSM019, SSM004
Known GenesPEPD
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)esv2718472
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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