A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718266



Internal ID9952557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16597182..16597590hg38UCSC Ensembl
Outerchr19:16707993..16708401hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801298, essv6967457, essv6703526
SamplesSSM027, SSM072, SSM039
Known GenesMED26
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)esv2718266
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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