A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646009



Internal ID7032754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49090767..49096451hg38UCSC Ensembl
chr20:47707304..47712988hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg385685
hg195685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198876, essv16198875, essv16198874
SamplesNA21099, HG03862, NA19093
Known GenesCSE1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646009
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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