A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546235



Internal ID18400625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44927946..44928700hg38UCSC Ensembl
Outerchr10:44927763..44928828hg38UCSC Ensembl
Innerchr10:45423394..45424148hg19UCSC Ensembl
Outerchr10:45423211..45424276hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744982
Samples
Known GenesTMEM72, TMEM72-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546235
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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