A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5447399



Internal ID9489348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69891849..69895727hg38UCSC Ensembl
chr2:70118981..70122859hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383879
hg193879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676897
Supporting Variants
SamplesNA18963
Known GenesSNRNP27
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5447399
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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