A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1239275



Internal ID12402398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125036178..125036178hg38UCSC Ensembl
chr12:125520724..125520724hg19UCSC Ensembl
chr12:124086677..124086677hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4300044
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1239275
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