A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921375



Internal ID10031513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39638085..39692271hg38UCSC Ensembl
Outerchr19:40128725..40182911hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3854187
hg1954187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718554
Supporting Variants
SamplesSSM017
Known GenesLGALS16, LGALS17A, LOC100129935
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)essv6921375
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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