A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5803333



Internal ID9701785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175481940..175487993hg38UCSC Ensembl
chr2:176346668..176352721hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386054
hg196054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658477
Supporting Variants
SamplesNA19452
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5803333
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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