A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4267834



Internal ID11203686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107026152..107026152hg38UCSC Ensembl
chr12:107419930..107419930hg19UCSC Ensembl
chr12:105944060..105944060hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1520737
Supporting Variants
SamplesHuRef
Known GenesCRY1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4267834
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer