A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14359007



Internal ID6436426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8671335..8681109hg38UCSC Ensembl
Innerchr12:8671335..8681109hg38UCSC Ensembl
Outerchr12:8671231..8681203hg38UCSC Ensembl
chr12:8823931..8833705hg19UCSC Ensembl
Innerchr12:8823931..8833705hg19UCSC Ensembl
Outerchr12:8823827..8833799hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389775
hg199775
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628476
Supporting Variants
SamplesNA20507
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14359007
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