A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1692681



Internal ID12509113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20623789..20623789hg38UCSC Ensembl
chr12:20776723..20776723hg19UCSC Ensembl
chr12:20667990..20667990hg18UCSC 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 Variantsessv3965506
SamplesHuRef
Known GenesPDE3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1692681
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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