A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454261



Internal ID2456077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84680799..84734077hg38UCSC Ensembl
chr6:85390517..85443795hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3853279
hg1953279
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609800
Supporting Variants
SamplesHG02146
Known GenesTBX18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454261
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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