A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11550n54



Internal ID20144974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102609111..102658394hg38UCSC Ensembl
chr7:102249558..102298841hg19UCSC Ensembl
chr7:102036621..102086077hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3849284
hg1949284
hg1849457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608052, nsv608053, nsv608049
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11550n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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