A curated catalogue of human genomic structural variation




Variant Details

Variant: essv84212



Internal ID11303523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136795692..136859658hg38UCSC Ensembl
Innerchr9:139690144..139754110hg19UCSC Ensembl
Innerchr9:138809965..138873931hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3863967
hg1963967
hg1863967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv29973
Supporting Variants
SamplesHuRef
Known GenesC9orf172, CCDC183, CCDC183-AS1, MAMDC4, MIR4292, PHPT1, RABL6
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv84212
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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