A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16142640



Internal ID2122380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11462893..11471537hg38UCSC Ensembl
Innerchr20:11462912..11471519hg38UCSC Ensembl
Outerchr20:11462875..11471556hg38UCSC Ensembl
chr20:11443541..11452185hg19UCSC Ensembl
Innerchr20:11443560..11452167hg19UCSC Ensembl
Outerchr20:11443523..11452204hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg388645
hg198645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645220
Supporting Variants
SamplesHG01927
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16142640
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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