A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785205



Internal ID18829648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72431648..72637305hg38UCSC Ensembl
Innerchr9:75046564..75252221hg19UCSC Ensembl
Innerchr9:74236384..74442041hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38205658
hg19205658
hg18205658
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891682
Supporting Variants
Samples
Known GenesTMC1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=36
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785205
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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