A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11543n54



Internal ID20144967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102543450..102667228hg38UCSC Ensembl
chr7:102183897..102307675hg19UCSC Ensembl
chr7:101970902..102094911hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38123779
hg19123779
hg18124010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608034, nsv608030, nsv608019, nsv608017, nsv608025, nsv608024, nsv608031, nsv608020, nsv608023, nsv608018, nsv608032
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)dgv11543n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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