A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717722



Internal ID10301358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:534631..534935hg38UCSC Ensembl
Outerchr19:534631..534935hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv478e201
Supporting Variantsessv6967372, essv6960899, essv6689016, essv6674717, essv6678813, essv6666329
SamplesSSM027, SSM029, SSM026, SSM035, SSM032, SSM031
Known GenesCDC34
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)esv2717722
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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