A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2412n106



Internal ID22796240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45642786..45644486hg38UCSC Ensembl
chr21:47062700..47064400hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133532, nsv1118941
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2412n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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