A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv289e214



Internal ID22756183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80561595..80616743hg38UCSC Ensembl
chr12:80955374..81010522hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3855149
hg1955149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630115, esv3630116
SamplesHG02271, HG01617
Known GenesPTPRQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv289e214
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