A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10643n54



Internal ID22778538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47595030..47598108hg38UCSC Ensembl
chr6:47562766..47565844hg19UCSC Ensembl
chr6:47670725..47673803hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg383079
hg193079
hg183079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv603015, nsv603013, nsv603014
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10643n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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