A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646136



Internal ID7032881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54230800..54233827hg38UCSC Ensembl
Innerchr20:54230812..54233815hg38UCSC Ensembl
Outerchr20:54230788..54233839hg38UCSC Ensembl
chr20:52847339..52850366hg19UCSC Ensembl
Innerchr20:52847351..52850354hg19UCSC Ensembl
Outerchr20:52847327..52850378hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16207690, essv16207691, essv16207689
SamplesHG03951, HG03867, HG03886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646136
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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