A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718887



Internal ID9953179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54680623..54680815hg38UCSC Ensembl
Outerchr19:55191879..55192071hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666547, essv6792995, essv6744773, essv6769311, essv6967553, essv6784705, essv6824715, essv6717910
SamplesSSM027, SSM064, SSM079, SSM029, SSM068, SSM053, SSM070, SSM043
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)esv2718887
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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