A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663332



Internal ID9929437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4666731..4689516hg38UCSC Ensembl
chr2:4714321..4737106hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3822786
hg1922786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6312622
SamplesHG01148
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663332
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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