A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645254



Internal ID7032004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:12357638..12372946hg38UCSC Ensembl
Innerchr20:12357638..12372946hg38UCSC Ensembl
Outerchr20:12357509..12373042hg38UCSC Ensembl
chr20:12338286..12353594hg19UCSC Ensembl
Innerchr20:12338286..12353594hg19UCSC Ensembl
Outerchr20:12338157..12353690hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3815309
hg1915309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16143059, essv16143060, essv16143058
SamplesNA18571, HG01595, NA18989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645254
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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