A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10930n54



Internal ID22778825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128100617..128226032hg38UCSC Ensembl
chr6:128421762..128547177hg19UCSC Ensembl
chr6:128463455..128588870hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38125416
hg19125416
hg18125416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv604646, nsv604647
Samples
Known GenesPTPRK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10930n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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