A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3965506



Internal ID11449680
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1692681
Supporting Variants
SamplesHuRef
Known GenesPDE3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3965506
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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