A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660423



Internal ID9926528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24331981..24335979hg38UCSC Ensembl
chr2:24554850..24558848hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5823364
SamplesNA19385
Known GenesITSN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660423
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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