A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718189



Internal ID9952480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11949944..11979516hg38UCSC Ensembl
Outerchr19:12060759..12090331hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3829573
hg1929573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917087
SamplesSSM016
Known GenesZNF700, ZNF763
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)esv2718189
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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