A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611158



Internal ID6998069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146812266..146818479hg38UCSC Ensembl
chr6:147133402..147139615hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg386214
hg196214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12577415, essv12577414, essv12577413
SamplesHG03021, HG00240, HG01700
Known GenesADGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611158
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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