A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611164



Internal ID6998075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147127460..147172647hg38UCSC Ensembl
chr6:147448596..147493783hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3845188
hg1945188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12577521
SamplesHG03160
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611164
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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