A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6844n54



Internal ID20140268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45531486..45532808hg38UCSC Ensembl
chr2:45758625..45759947hg19UCSC Ensembl
chr2:45612129..45613451hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381323
hg191323
hg181323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581727, nsv581726, nsv581729, nsv581728, nsv581731, nsv581730
Samples
Known GenesSRBD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6844n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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