A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6102120



Internal ID9079523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46460931..46468587hg38UCSC Ensembl
Outerchr13:46460410..46468957hg38UCSC Ensembl
Innerchr13:47035066..47042722hg19UCSC Ensembl
Outerchr13:47034545..47043092hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg388548
hg198548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664817
Supporting Variants
SamplesHG00537
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6102120
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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