A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12922759



Internal ID5284138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:109408654..109515575hg38UCSC Ensembl
Innerchr7:109408672..109515557hg38UCSC Ensembl
Outerchr7:109408636..109515593hg38UCSC Ensembl
chr7:109048711..109155632hg19UCSC Ensembl
Innerchr7:109048729..109155614hg19UCSC Ensembl
Outerchr7:109048693..109155650hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38106922
hg19106922
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614495
Supporting Variants
SamplesNA18647
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12922759
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