A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662742



Internal ID9928847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43320676..43342179hg38UCSC Ensembl
chr2:43547815..43569318hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3821504
hg1921504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6319212, essv6391505
SamplesHG01489, HG01125
Known GenesTHADA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662742
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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