A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5500183



Internal ID8852113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52783820..52789052hg38UCSC Ensembl
Outerchr13:52783663..52789205hg38UCSC Ensembl
Innerchr13:53357955..53363187hg19UCSC Ensembl
Outerchr13:53357798..53363340hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385543
hg195543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677648
Supporting Variants
SamplesHG00306
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5500183
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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