A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814876



Internal ID9658500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53113222..53113649hg38UCSC Ensembl
Outerchr19:53616475..53616902hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718810, esv2718811, esv2718787
Supporting Variants
SamplesSSM009
Known GenesZNF415
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)essv6814876
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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