A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5848231



Internal ID9807280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48734919..48737904hg38UCSC Ensembl
chr13:49309055..49312040hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382986
hg192986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659212
Supporting Variants
SamplesNA19908
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5848231
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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