A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169147



Internal ID6780741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38444462..38445684hg38UCSC Ensembl
Innerchr8:38444503..38445643hg38UCSC Ensembl
Outerchr8:38444421..38445725hg38UCSC Ensembl
chr8:38301980..38303202hg19UCSC Ensembl
Innerchr8:38302021..38303161hg19UCSC Ensembl
Outerchr8:38301939..38303243hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616926
Supporting Variants
SamplesNA20881
Known GenesFGFR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169147
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