A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718816



Internal ID9953108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53351955..53353363hg38UCSC Ensembl
Outerchr19:53855208..53856616hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880257
SamplesSSM093
Known GenesZNF845
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)esv2718816
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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