A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv949n106



Internal ID22794777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36232633..36232731hg38UCSC Ensembl
chr13:36806770..36806868hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136863, nsv1130010
SamplesKWS1
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv949n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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