A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668267



Internal ID9587686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214297842..214300521hg38UCSC Ensembl
chr1:214471185..214473864hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg382680
hg192680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6530047
SamplesNA19834
Known GenesSMYD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668267
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