A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479975



Internal ID2378431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50863663..50864865hg38UCSC Ensembl
Innerchr12:50863667..50864861hg38UCSC Ensembl
Outerchr12:50863659..50864869hg38UCSC Ensembl
chr12:51257446..51258648hg19UCSC Ensembl
Innerchr12:51257450..51258644hg19UCSC Ensembl
Outerchr12:51257442..51258652hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381203
hg191203
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629492
Supporting Variants
SamplesHG02107
Known GenesTMPRSS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479975
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