A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718307



Internal ID9952598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20210837..20293982hg38UCSC Ensembl
Outerchr19:20321646..20404791hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3883146
hg1983146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784635, essv6716832, essv6756318
SamplesSSM058, SSM006, SSM068
Known Genes
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)esv2718307
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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