A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv744e199



Internal ID22758517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164626657..164630162hg38UCSC Ensembl
chr2:165483167..165486672hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383506
hg193506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2664919, esv2674831
SamplesHG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv744e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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