A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6067789



Internal ID9045192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206867257..206871886hg38UCSC Ensembl
chr1:207040602..207045231hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384630
hg194630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660993
Supporting Variants
SamplesNA19681
Known GenesIL20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6067789
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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