A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14515237



Internal ID4517053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66130674..66161690hg38UCSC Ensembl
chr12:66524454..66555470hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3831017
hg1931017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629796
Supporting Variants
SamplesHG03888
Known GenesLLPH, TMBIM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14515237
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