A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3244n106



Internal ID22797072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181253100..181254440hg38UCSC Ensembl
chr5:180680100..180681440hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112433, nsv1126069
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3244n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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