A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv295e214



Internal ID22756189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95901150..95912117hg38UCSC Ensembl
chr12:96294928..96305895hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810968
hg1910968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630442, esv3630441
SamplesHG02687
Known GenesCCDC38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv295e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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