A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16219068



Internal ID927788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59721833..59740556hg38UCSC Ensembl
Innerchr20:59721834..59740555hg38UCSC Ensembl
Outerchr20:59721832..59740557hg38UCSC Ensembl
chr20:58296888..58315611hg19UCSC Ensembl
Innerchr20:58296889..58315610hg19UCSC Ensembl
Outerchr20:58296887..58315612hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3818724
hg1918724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646233
Supporting Variants
SamplesHG00554
Known GenesPHACTR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16219068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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