A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3848855



Internal ID11566330
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1326828
Supporting Variants
SamplesHuRef
Known GenesPDE3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3848855
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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