A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789216



Internal ID19168203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32535387..32580208hg38UCSC Ensembl
Innerchr17:30862405..30907226hg19UCSC Ensembl
Innerchr17:27886518..27931339hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3844822
hg1944822
hg1844822
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892994
Supporting Variants
Samples
Known GenesMYO1D
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789216
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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