A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645965



Internal ID6686025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47076736..47080829hg38UCSC Ensembl
chr20:45705375..45709468hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg384094
hg194094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196857, essv16196851, essv16196852, essv16196855, essv16196854, essv16196856, essv16196853
SamplesNA18602, NA18642, HG01628, HG02090, HG02088, HG02971, HG03886
Known GenesEYA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645965
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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