A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645055



Internal ID7031806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3851688..3853227hg38UCSC Ensembl
Innerchr20:3851701..3853215hg38UCSC Ensembl
Outerchr20:3851676..3853240hg38UCSC Ensembl
chr20:3832335..3833874hg19UCSC Ensembl
Innerchr20:3832348..3833862hg19UCSC Ensembl
Outerchr20:3832323..3833887hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381540
hg191540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16122246, essv16122247, essv16122245
SamplesHG02652, NA20864, NA20851
Known GenesMAVS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645055
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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