A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3904e59



Internal ID20130653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102598537..102657067hg38UCSC Ensembl
chr7:102238984..102297514hg19UCSC Ensembl
chr7:102026052..102084750hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3858531
hg1958531
hg1858699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3387572, esv3368880, esv3435020
SamplesNA12892, NA19238, NA12878
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3904e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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