A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675165



Internal ID9594584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10426554..10426751hg38UCSC Ensembl
Outerchr21:10426504..10426788hg38UCSC Ensembl
Innerchr21:11085706..11085903hg19UCSC Ensembl
Outerchr21:11085669..11085953hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6575338, essv6347155, essv6353290, essv6114737, essv6163168, essv5797056, essv5581677, essv5619899, essv5676387, essv6282523, essv5678399, essv5698978, essv5722762, essv6110916, essv6065873, essv6492678, essv5422162, essv5914537, essv5560619, essv6281439, essv5932374, essv5858127, essv6299846, essv6315867
SamplesNA12154, NA19404, NA20346, NA18550, NA19359, NA20340, NA18934, NA18856, HG00284, NA19360, NA19380, NA19395, NA07346, NA12716, NA19375, NA18498, HG01070, NA19789, HG00281, NA19198, NA18549, NA18853, NA19381, NA18555
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675165
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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