A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6751n54



Internal ID20140175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999538..33001407hg38UCSC Ensembl
chr2:33224605..33226474hg19UCSC Ensembl
chr2:33078109..33079978hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381870
hg191870
hg181870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581292, nsv581296, nsv581297, nsv581295, nsv581289, nsv581291, nsv581290, nsv581299
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6751n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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