A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10891n54



Internal ID20144315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104813034..104814306hg38UCSC Ensembl
chr6:105260909..105262181hg19UCSC Ensembl
chr6:105367602..105368874hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381273
hg191273
hg181273
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv604417, nsv604410, nsv604418, nsv604415, nsv604411, nsv604423, nsv604406, nsv604422, nsv604416, nsv604425, nsv604407, nsv604426
Samples
Known GenesHACE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10891n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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