A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6301141



Internal ID9278544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243277286..243282336hg38UCSC Ensembl
chr1:243440588..243445638hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg385051
hg195051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674670
Supporting Variants
SamplesHG00556
Known GenesSDCCAG8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6301141
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