A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661939



Internal ID9581358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102848573..102849545hg38UCSC Ensembl
chr13:103500923..103501895hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5727989, essv5640236
SamplesHG00173, HG00313
Known GenesBIVM-ERCC5, ERCC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661939
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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