A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670401



Internal ID9589820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30622821..30623633hg38UCSC Ensembl
chr13:31196958..31197770hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5859864, essv5991526, essv5740311, essv6509713, essv5837661, essv5747007
SamplesHG01052, NA19725, NA12718, HG01102, HG01334, NA20792
Known GenesUSPL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670401
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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