A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646233



Internal ID7032978
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16219067, essv16219070, essv16219069, essv16219068
SamplesHG00121, HG04070, HG02493, HG00554
Known GenesPHACTR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646233
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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