A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5410505



Internal ID8387908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166299169..166302283hg38UCSC Ensembl
chr2:167155679..167158793hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383115
hg193115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658860
Supporting Variants
SamplesNA19107
Known GenesSCN9A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5410505
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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