A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566070



Internal ID18767146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95156366..95156460hg38UCSC Ensembl
chr1:95621922..95622016hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764817
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566070
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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