A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv865n54



Internal ID20134289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236713676..236714968hg38UCSC Ensembl
chr1:236876976..236878268hg19UCSC Ensembl
chr1:234943599..234944891hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381293
hg191293
hg181293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549411, nsv549410, nsv549409
Samples
Known GenesACTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv865n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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