A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718430



Internal ID9952721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29930921..29932868hg38UCSC Ensembl
Outerchr19:30421828..30423775hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668729, essv6880226
SamplesSSM093, SSM030
Known GenesURI1
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)esv2718430
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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