A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16186547



Internal ID2905476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40003528..40014870hg38UCSC Ensembl
Innerchr20:40003678..40014720hg38UCSC Ensembl
Outerchr20:40003378..40015020hg38UCSC Ensembl
chr20:38632170..38643512hg19UCSC Ensembl
Innerchr20:38632320..38643362hg19UCSC Ensembl
Outerchr20:38632020..38643662hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3811343
hg1911343
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645816
Supporting Variants
SamplesHG02574
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16186547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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