A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3011n106



Internal ID20162368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:317585..318485hg38UCSC Ensembl
chr5:317700..318600hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1137519, nsv1144095
SamplesKWS1, KWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3011n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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