A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3248n106



Internal ID20162605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:666300..667908hg38UCSC Ensembl
chr6:666300..667908hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381609
hg191609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111822, nsv1121339, nsv1120878, nsv1127720
SamplesKWS1, KWS2
Known GenesEXOC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3248n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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