A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3398n106



Internal ID20162755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136261477..136268225hg38UCSC Ensembl
chr6:136582615..136589363hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386749
hg196749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112135, nsv1130109, nsv1109368
SamplesKWS1, KWS2
Known GenesBCLAF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3398n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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