A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683971



Internal ID6846564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12889606..12952303hg38UCSC Ensembl
chr7:12929231..12991928hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3862698
hg1962698
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612269
Supporting Variants
SamplesNA20911
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683971
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