A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13512338



Internal ID3514154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70557016..70566044hg38UCSC Ensembl
Innerchr9:70557030..70566030hg38UCSC Ensembl
Outerchr9:70557002..70566058hg38UCSC Ensembl
chr9:73171932..73180960hg19UCSC Ensembl
Innerchr9:73171946..73180946hg19UCSC Ensembl
Outerchr9:73171918..73180974hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg389029
hg199029
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620580
Supporting Variants
SamplesHG02236
Known GenesTRPM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13512338
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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