A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905854



Internal ID10016624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39644582..39698074hg38UCSC Ensembl
Outerchr19:40135222..40188714hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3853493
hg1953493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718554
Supporting Variants
SamplesSSM013
Known GenesLGALS16, LGALS17A
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)essv6905854
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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