A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676923



Internal ID9596342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221505301..221537331hg38UCSC Ensembl
Outerchr2:221505264..221537381hg38UCSC Ensembl
Innerchr2:222370021..222402051hg19UCSC Ensembl
Outerchr2:222369984..222402101hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3832118
hg1932118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5540183
SamplesNA18856
Known GenesEPHA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676923
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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