A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6539n100



Internal ID20158155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102597673..102717945hg38UCSC Ensembl
chr7:102238120..102358392hg19UCSC Ensembl
chr7:102025190..102145628hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38120273
hg19120273
hg18120439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017483, nsv1023476
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6539n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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