A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397016



Internal ID15243979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102606638..102611240hg38UCSC Ensembl
Innerchr7:102607642..102610240hg38UCSC Ensembl
Outerchr7:102605637..102612083hg38UCSC Ensembl
chr7:102247085..102251687hg19UCSC Ensembl
Innerchr7:102248089..102250687hg19UCSC Ensembl
Outerchr7:102246084..102252530hg19UCSC Ensembl
chr7:102034152..102038750hg18UCSC Ensembl
Innerchr7:102035152..102037750hg18UCSC Ensembl
Outerchr7:102033152..102039750hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg384603
hg194603
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695438
SamplesNA12892
Known GenesPOLR2J3, RASA4, RASA4B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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