A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2194n106



Internal ID20161551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240998483..240999483hg38UCSC Ensembl
chr2:241937900..241938900hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126587, nsv1122026
SamplesKWS2, KWS1
Known GenesSNED1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2194n106
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