A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2721n54



Internal ID22770616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78085837..78111067hg38UCSC Ensembl
chr12:78479617..78504847hg19UCSC Ensembl
chr12:77003748..77028978hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3825231
hg1925231
hg1825231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559432, nsv559433
Samples1780862126_A, 1780862176_A
Known GenesNAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2721n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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