A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6846n54



Internal ID20140270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45531727..45532808hg38UCSC Ensembl
chr2:45758866..45759947hg19UCSC Ensembl
chr2:45612370..45613451hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581734, nsv581736, nsv581733, nsv581737, nsv581735
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6846n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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