A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717833



Internal ID3268329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1207983..1208221hg38UCSC Ensembl
Outerchr19:1207982..1208220hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950132, essv6946072
SamplesSSM024, SSM023
Known GenesSTK11
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)esv2717833
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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