A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3773n106



Internal ID20163130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12037591..12115391hg38UCSC Ensembl
chr8:11895100..11972900hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3877801
hg1977801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1137610, nsv1145190
SamplesKWS1, KWS2
Known GenesDEFB130, LOC100133267, ZNF705D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3773n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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