A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14573949



Internal ID5172855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95376481..95382256hg38UCSC Ensembl
Innerchr12:95376496..95382242hg38UCSC Ensembl
Outerchr12:95376467..95382271hg38UCSC Ensembl
chr12:95770257..95776032hg19UCSC Ensembl
Innerchr12:95770272..95776018hg19UCSC Ensembl
Outerchr12:95770243..95776047hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385776
hg195776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630431
Supporting Variants
SamplesNA18599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14573949
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