A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666347



Internal ID9932452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39179332..39192940hg38UCSC Ensembl
Outerchr2:39179295..39192990hg38UCSC Ensembl
Innerchr2:39406473..39420081hg19UCSC Ensembl
Outerchr2:39406436..39420131hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3813696
hg1913696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6068342
SamplesNA19072
Known GenesCDKL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666347
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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