A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1326828



Internal ID12143265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20386050..20386050hg38UCSC Ensembl
chr12:20538984..20538984hg19UCSC Ensembl
chr12:20430251..20430251hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3848855
SamplesHuRef
Known GenesPDE3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1326828
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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