A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616556



Internal ID7003442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20027552..20036427hg38UCSC Ensembl
Innerchr8:20027552..20036427hg38UCSC Ensembl
Outerchr8:20027201..20036780hg38UCSC Ensembl
chr8:19885063..19893938hg19UCSC Ensembl
Innerchr8:19885063..19893938hg19UCSC Ensembl
Outerchr8:19884712..19894291hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg388876
hg198876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13132399, essv13132395, essv13132398, essv13132390, essv13132396, essv13132389, essv13132397, essv13132392, essv13132391, essv13132387, essv13132394, essv13132388, essv13132393
SamplesHG00650, HG01860, HG04094, HG01873, HG02151, HG02190, NA19086, NA18637, NA18948, HG00404, HG04155, HG02188, NA20908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616556
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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