A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2518n106



Internal ID22796346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44893808..44894508hg38UCSC Ensembl
chr3:44935300..44936000hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126646, nsv1112824
SamplesKWS2, KWS1
Known GenesTGM4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2518n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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