A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6541n100



Internal ID20158157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102648063..102762163hg38UCSC Ensembl
chr7:102288510..102402610hg19UCSC Ensembl
chr7:102075746..102189846hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38114101
hg19114101
hg18114101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1033548, nsv1034146
Samples
Known GenesFAM185A, POLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6541n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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