A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1512111



Internal ID12328547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137818612..137819106hg38UCSC Ensembl
chr9:140713064..140713558hg19UCSC Ensembl
chr9:139832885..139833379hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38495
hg19495
hg18495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3854845
SamplesHuRef
Known GenesEHMT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1512111
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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