A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5504057



Internal ID8481460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25459705..25461125hg38UCSC Ensembl
chr2:25682574..25683994hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381421
hg191421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671046
Supporting Variants
SamplesHG00122
Known GenesDTNB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5504057
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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