A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5825490



Internal ID8802893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77542697..77546543hg38UCSC Ensembl
chr13:78116832..78120678hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383847
hg193847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659703
Supporting Variants
SamplesHG01067
Known GenesSCEL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5825490
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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