A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717721



Internal ID10301357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:534151..535077hg38UCSC Ensembl
Outerchr19:534151..535077hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38927
hg19927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967372, essv6947129, essv6960899, essv6689016, essv6674717, essv6735774, essv6780453, essv6863536, essv6801255, essv6873919, essv6895517, essv6773066, essv6678813, essv6666329
SamplesSSM027, SSM011, SSM065, SSM088, SSM029, SSM026, SSM035, SSM032, SSM003, SSM031, SSM067, SSM072, SSM098, SSM049
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)esv2717721
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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