A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16211472



Internal ID1481034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:55859462..55865660hg38UCSC Ensembl
Innerchr20:55859962..55865160hg38UCSC Ensembl
Outerchr20:55858462..55866660hg38UCSC Ensembl
chr20:54434518..54440716hg19UCSC Ensembl
Innerchr20:54435018..54440216hg19UCSC Ensembl
Outerchr20:54433518..54441716hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386199
hg196199
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646176
Supporting Variants
SamplesHG01363
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16211472
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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