A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11547n54



Internal ID20144971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102572137..102642206hg38UCSC Ensembl
chr7:102212584..102282653hg19UCSC Ensembl
chr7:101999689..102069889hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3870070
hg1970070
hg1870201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608043, nsv608037
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, UPK3BL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11547n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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