A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv821n106



Internal ID19018930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61901250..61901444hg38UCSC Ensembl
chr12:62295031..62295225hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1122319, nsv1138143
SamplesKWS1, KWS2
Known GenesFAM19A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv821n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer