A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646002



Internal ID6686062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48807830..48823190hg38UCSC Ensembl
Innerchr20:48808330..48822690hg38UCSC Ensembl
Outerchr20:48806830..48824190hg38UCSC Ensembl
chr20:47424367..47439727hg19UCSC Ensembl
Innerchr20:47424867..47439227hg19UCSC Ensembl
Outerchr20:47423367..47440727hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3815361
hg1915361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198737
SamplesNA20826
Known GenesPREX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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