A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2407n106



Internal ID19020516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45108700..45108787hg38UCSC Ensembl
chr21:46528615..46528702hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1114300, nsv1145362
SamplesKWS1, KWS2
Known GenesADARB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2407n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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