A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10273977



Internal ID2706306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206135385..206141401hg38UCSC Ensembl
chr1:206199929..206205945hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588647
Supporting Variants
SamplesHG02390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10273977
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