A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13070068



Internal ID3071884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2811468..2947245hg38UCSC Ensembl
chr8:2668990..2804767hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38135778
hg19135778
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615892
Supporting Variants
SamplesNA19058
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13070068
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer