A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5752563



Internal ID8729966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2263830..2270749hg38UCSC Ensembl
chr3:2305514..2312433hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg386920
hg196920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672397
Supporting Variants
SamplesHG01389
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5752563
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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