A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335356



Internal ID14835629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102480200..102677167hg38UCSC Ensembl
Innerchr7:102481200..102676167hg38UCSC Ensembl
Outerchr7:102479200..102678167hg38UCSC Ensembl
chr7:102120647..102317614hg19UCSC Ensembl
Innerchr7:102121647..102316614hg19UCSC Ensembl
Outerchr7:102119647..102318614hg19UCSC Ensembl
chr7:101907652..102104850hg18UCSC Ensembl
Innerchr7:101908652..102103850hg18UCSC Ensembl
Outerchr7:101906652..102105850hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38196968
hg19196968
hg18197199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3894e59
Supporting Variantsessv8695388
SamplesNA19240
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335356
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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