A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1064n106



Internal ID22794892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31344655..31344870hg38UCSC Ensembl
chr14:31813861..31814076hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135476, nsv1129927, nsv1141813
SamplesKWS2, KWS1
Known GenesHEATR5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1064n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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