A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1183e214



Internal ID20122606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53765490..53799873hg38UCSC Ensembl
chr6:53630288..53664671hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3834384
hg1934384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3609034, esv3609035
SamplesHG00253, HG02511, HG04189
Known GenesLRRC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1183e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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