A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2398n106



Internal ID20161755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43426520..43428320hg38UCSC Ensembl
chr21:44846400..44848200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126611, nsv1133529
SamplesKWS1, KWS2
Known GenesSIK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2398n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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