A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv969n106



Internal ID20160326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49377264..49379734hg38UCSC Ensembl
chr13:49951400..49953870hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382471
hg192471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130328, nsv1129919, nsv1124049
SamplesKWS1, KWS2
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv969n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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