A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16126304



Internal ID5954450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:5180271..5181132hg38UCSC Ensembl
Innerchr20:5180271..5181132hg38UCSC Ensembl
Outerchr20:5180199..5181230hg38UCSC Ensembl
chr20:5160917..5161778hg19UCSC Ensembl
Innerchr20:5160917..5161778hg19UCSC Ensembl
Outerchr20:5160845..5161876hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645092
Supporting Variants
SamplesNA19374
Known GenesCDS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16126304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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