A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv679e199



Internal ID22758452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10411785..10417748hg38UCSC Ensembl
chr2:10551911..10557874hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385964
hg195964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666433, esv2674380
SamplesNA19066
Known GenesHPCAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv679e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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