A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631388



Internal ID7018197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19473937..19542197hg38UCSC Ensembl
chr13:20048077..20116337hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3868261
hg1968261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14657125, essv14657122, essv14657123, essv14657124
SamplesNA19722, NA19184, HG02445, NA19011
Known GenesTPTE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631388
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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