A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718825



Internal ID9953117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53530063..53530555hg38UCSC Ensembl
Outerchr19:54033317..54033809hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668762, essv6678905, essv6782199
SamplesSSM008, SSM032, SSM030
Known GenesZNF331
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)esv2718825
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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