A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14515236



Internal ID4517052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66092795..66125106hg38UCSC Ensembl
Innerchr12:66092795..66125106hg38UCSC Ensembl
Outerchr12:66092295..66125606hg38UCSC Ensembl
chr12:66486575..66518886hg19UCSC Ensembl
Innerchr12:66486575..66518886hg19UCSC Ensembl
Outerchr12:66486075..66519386hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3832312
hg1932312
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629795
Supporting Variants
SamplesHG03888
Known GenesLLPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14515236
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