A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5513922



Internal ID9153449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88861261..89221689hg38UCSC Ensembl
Outerchr2:88861227..89221724hg38UCSC Ensembl
Innerchr2:89160773..89521170hg19UCSC Ensembl
Outerchr2:89160739..89521205hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38360498
hg19360467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658130
Supporting Variants
SamplesHG01342
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5513922
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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