A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675392



Internal ID9594811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105729439..105732667hg38UCSC Ensembl
chr9:108491720..108494948hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg383229
hg193229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5871323, essv5858726, essv6298044, essv6268936, essv6134612
SamplesHG00589, NA18606, HG00580, NA19070, HG00531
Known GenesTMEM38B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675392
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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