A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2514n106



Internal ID22796342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796864..42799324hg38UCSC Ensembl
chr3:42838356..42840816hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135134, nsv1121252
SamplesKWS2, KWS1
Known GenesHIGD1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2514n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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