A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646207



Internal ID7032952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57044028..57047604hg38UCSC Ensembl
Innerchr20:57044028..57047604hg38UCSC Ensembl
Outerchr20:57043722..57047939hg38UCSC Ensembl
chr20:55619084..55622660hg19UCSC Ensembl
Innerchr20:55619084..55622660hg19UCSC Ensembl
Outerchr20:55618778..55622995hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16218891, essv16218893, essv16218892
SamplesHG02943, HG03304, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646207
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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