A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5640236



Internal ID8617639
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 StatusS
Merged Variantsesv2661939
Supporting Variants
SamplesHG00313
Known GenesBIVM-ERCC5, ERCC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5640236
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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