A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646069



Internal ID7032814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51744241..51752814hg38UCSC Ensembl
chr20:50360780..50369353hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388574
hg198574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199694
SamplesHG01101
Known GenesATP9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646069
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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