A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682511



Internal ID10095238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8340152..8340331hg38UCSC Ensembl
Outerchr19:8405036..8405215hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718120, esv2718121
Supporting Variants
SamplesSSM033
Known GenesKANK3
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)essv6682511
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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