A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14481124



Internal ID3322608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51663289..51667550hg38UCSC Ensembl
Innerchr12:51663313..51667527hg38UCSC Ensembl
Outerchr12:51663266..51667574hg38UCSC Ensembl
chr12:52057073..52061334hg19UCSC Ensembl
Innerchr12:52057097..52061311hg19UCSC Ensembl
Outerchr12:52057050..52061358hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384262
hg194262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629509
Supporting Variants
SamplesHG02970
Known GenesSCN8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14481124
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