A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6244783



Internal ID9571193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100654389..100656807hg38UCSC Ensembl
chr1:101119945..101122363hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675706
Supporting Variants
SamplesNA19130
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6244783
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