A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678607



Internal ID9598026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111562515..111563714hg38UCSC Ensembl
Outerchr9:111562478..111563764hg38UCSC Ensembl
Innerchr9:114324795..114325994hg19UCSC Ensembl
Outerchr9:114324758..114326044hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6560801, essv5685489
SamplesHG01351, HG01113
Known GenesPTGR1, ZNF483
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678607
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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