A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv455e1



Internal ID6308253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7856819..8623987hg19UCSC Ensembl
chr12:7748086..8515254hg18UCSC Ensembl
chr12:7748086..8515254hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv22869, essv19432, esv757, essv15244
SamplesNA11840, NA19094, NA12760
Known GenesC3AR1, CLEC4A, CLEC4C, CLEC6A, DPPA3, FAM66C, FAM86FP, FAM90A1, FOXJ2, LOC389634, NANOG, NANOGNB, NECAP1, POU5F1P3, SLC2A14, SLC2A3, ZNF705A
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv455e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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