A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14657125



Internal ID6190670
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631388
Supporting Variants
SamplesNA19722
Known GenesTPTE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14657125
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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