A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6216392



Internal ID9441828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77597135..77598053hg38UCSC Ensembl
chr13:78171270..78172188hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38919
hg19919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677047
Supporting Variants
SamplesNA18853
Known GenesSCEL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6216392
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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