A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1449756



Internal ID12266192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124379017..124379017hg38UCSC Ensembl
chr12:124863563..124863563hg19UCSC Ensembl
chr12:123429516..123429516hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3802331
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1449756
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