A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1472n106



Internal ID20160829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45307534..45500034hg38UCSC Ensembl
chr17:43384900..43577400hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38192501
hg19192501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126460, nsv1112708
SamplesKWS1, KWS2
Known GenesARHGAP27, MAP3K14, MIR4315-1, MIR4315-2, PLEKHM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1472n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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