A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699437



Internal ID10110897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55159573..55159983hg38UCSC Ensembl
Outerchr19:55670941..55671351hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38411
hg19411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718958
Supporting Variants
SamplesSSM038
Known GenesDNAAF3
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)essv6699437
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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