A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695389



Internal ID14706578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102480200..102690967hg38UCSC Ensembl
Innerchr7:102481200..102689967hg38UCSC Ensembl
Outerchr7:102479200..102691967hg38UCSC Ensembl
chr7:102120647..102331414hg19UCSC Ensembl
Innerchr7:102121647..102330414hg19UCSC Ensembl
Outerchr7:102119647..102332414hg19UCSC Ensembl
chr7:101907652..102118650hg18UCSC Ensembl
Innerchr7:101908652..102117650hg18UCSC Ensembl
Outerchr7:101906652..102119650hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38210768
hg19210768
hg18210999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3439752
Supporting Variants
SamplesNA19239
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695389
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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