A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv912n106



Internal ID20160269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132313014..132314314hg38UCSC Ensembl
chr12:132889600..132890900hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121861, nsv1126335
SamplesKWS1, KWS2
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv912n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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