A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14382093



Internal ID4363485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11219187..11227018hg38UCSC Ensembl
Innerchr12:11219187..11227018hg38UCSC Ensembl
Outerchr12:11218988..11227247hg38UCSC Ensembl
chr12:11372087..11379911hg19UCSC Ensembl
Innerchr12:11372087..11379911hg19UCSC Ensembl
Outerchr12:11371888..11380140hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg387832
hg197825
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628565
Supporting Variants
SamplesHG03896
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14382093
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