A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5800n54



Internal ID20139224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82013189..82035336hg38UCSC Ensembl
chr17:79971065..79993212hg19UCSC Ensembl
chr17:77564354..77586501hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3822148
hg1922148
hg1822148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv576185, nsv576184
Samples
Known GenesASPSCR1, LRRC45, RAC3, STRA13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5800n54
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