A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645085



Internal ID7031836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4984300..4984893hg38UCSC Ensembl
Innerchr20:4984308..4984886hg38UCSC Ensembl
Outerchr20:4984293..4984901hg38UCSC Ensembl
chr20:4964946..4965539hg19UCSC Ensembl
Innerchr20:4964954..4965532hg19UCSC Ensembl
Outerchr20:4964939..4965547hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16124421, essv16124420, essv16124419, essv16124418, essv16124417
SamplesHG02727, HG03229, HG04059, HG01589, NA21088
Known GenesSLC23A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645085
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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