A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812963



Internal ID9866586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36349858..36356199hg38UCSC Ensembl
Outerchr19:36840760..36847101hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg386342
hg196342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718503
Supporting Variants
SamplesSSM076
Known GenesZFP14
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)essv6812963
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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