A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14567767



Internal ID3360655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90921771..90925038hg38UCSC Ensembl
Innerchr12:90921771..90925038hg38UCSC Ensembl
Outerchr12:90921517..90925276hg38UCSC Ensembl
chr12:91315548..91318815hg19UCSC Ensembl
Innerchr12:91315548..91318815hg19UCSC Ensembl
Outerchr12:91315294..91319053hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383268
hg193268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630350
Supporting Variants
SamplesHG03015
Known GenesLINC00615
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14567767
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