A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657473



Internal ID9923578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21099575..21106781hg38UCSC Ensembl
Outerchr20:21099204..21107151hg38UCSC Ensembl
Innerchr20:21080216..21087422hg19UCSC Ensembl
Outerchr20:21079845..21087792hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg387948
hg197948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5533157, essv6541740, essv6443369, essv6138536, essv6185517, essv5635637, essv5987120, essv6085091, essv6107086, essv5908920, essv6258336, essv6141425, essv6040885, essv6339209, essv6011844, essv5919992, essv5821609, essv5877756, essv6095680, essv6254789, essv6268121
SamplesNA19443, NA19446, NA19448, NA19457, NA19313, NA19372, NA19437, NA19453, NA19469, NA19436, NA19440, NA19434, NA19435, NA19334, NA19311, NA19438, NA19472, NA19474, NA19430, NA19312, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657473
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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