A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6511874



Internal ID9489277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113769240..113774121hg38UCSC Ensembl
chr2:114526817..114531698hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg384882
hg194882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664865
Supporting Variants
SamplesNA19235
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6511874
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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