A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198736



Internal ID6200552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48758763..48761256hg38UCSC Ensembl
Innerchr20:48758763..48761256hg38UCSC Ensembl
Outerchr20:48758442..48761496hg38UCSC Ensembl
chr20:47375300..47377793hg19UCSC Ensembl
Innerchr20:47375300..47377793hg19UCSC Ensembl
Outerchr20:47374979..47378033hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382494
hg192494
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646001
Supporting Variants
SamplesNA20790
Known GenesPREX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198736
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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