A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6832349



Internal ID9885909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55093356..55094225hg38UCSC Ensembl
Outerchr19:55604724..55605593hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718946
Supporting Variants
SamplesSSM081
Known GenesPPP1R12C
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)essv6832349
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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