A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv285e214



Internal ID22756179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74004415..74072583hg38UCSC Ensembl
chr12:74398195..74466363hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3868169
hg1968169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3629978, esv3629977
SamplesHG03817, HG00380
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv285e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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