A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645061



Internal ID7031812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3914063..3915629hg38UCSC Ensembl
Innerchr20:3914063..3915629hg38UCSC Ensembl
Outerchr20:3913978..3915735hg38UCSC Ensembl
chr20:3894710..3896276hg19UCSC Ensembl
Innerchr20:3894710..3896276hg19UCSC Ensembl
Outerchr20:3894625..3896382hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16122332, essv16122331, essv16122330
SamplesNA19904, NA19917, NA19913
Known GenesPANK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645061
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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