A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3904n106



Internal ID22797732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130838254..130840492hg38UCSC Ensembl
chr8:131850500..131852738hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg382239
hg192239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1131957, nsv1133105, nsv1139293
SamplesKWS1
Known GenesADCY8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3904n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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