A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4069647



Internal ID11692227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109868011..109868011hg38UCSC Ensembl
chr12:110305816..110305816hg19UCSC Ensembl
chr12:108790199..108790199hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1367232
Supporting Variants
SamplesHuRef
Known GenesGLTP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4069647
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