A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1126957



Internal ID11943394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9189117..9189117hg38UCSC Ensembl
chr20:9169764..9169764hg19UCSC Ensembl
chr20:9117764..9117764hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4319532
SamplesHuRef
Known GenesPLCB4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1126957
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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