A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337494



Internal ID2304246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2759016..2761852hg38UCSC Ensembl
Innerchr12:2759033..2761835hg38UCSC Ensembl
Outerchr12:2758999..2761869hg38UCSC Ensembl
chr12:2868182..2871018hg19UCSC Ensembl
Innerchr12:2868199..2871001hg19UCSC Ensembl
Outerchr12:2868165..2871035hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382837
hg192837
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628319
Supporting Variants
SamplesHG02054
Known GenesLOC283440
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337494
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