A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646070



Internal ID7032815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51751394..51762342hg38UCSC Ensembl
chr20:50367933..50378881hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810949
hg1910949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16199695, essv16199696, essv16199697
SamplesHG03559, HG03556, HG01101
Known GenesATP9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646070
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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