A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv44n106



Internal ID22793872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13382063..13454933hg38UCSC Ensembl
chr1:13693200..13781400hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3872871
hg1988201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130949, nsv1118102
SamplesKWS2, KWS1
Known GenesPRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv44n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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