A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645849



Internal ID7032597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41766929..41986723hg38UCSC Ensembl
chr20:40395569..40615363hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38219795
hg19219795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16188551, essv16188549, essv16188550, essv16188552, essv16188554, essv16188553
SamplesNA12004, NA20805, NA12155, HG01503, NA19454, NA20503
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645849
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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