A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv880n106



Internal ID20160237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120640397..120641197hg38UCSC Ensembl
chr12:121078200..121079000hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143711, nsv1121855
SamplesKWS2, KWS1
Known GenesCABP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv880n106
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