A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431427



Internal ID15278383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31657167..31657377hg38UCSC Ensembl
Innerchr7:31657217..31657327hg38UCSC Ensembl
Outerchr7:31657117..31657427hg38UCSC Ensembl
chr7:31696781..31696991hg19UCSC Ensembl
Innerchr7:31696831..31696941hg19UCSC Ensembl
Outerchr7:31696731..31697041hg19UCSC Ensembl
chr7:31663306..31663516hg18UCSC Ensembl
Innerchr7:31663356..31663466hg18UCSC Ensembl
Outerchr7:31663256..31663566hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38211
hg19211
hg18211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741299
SamplesNA19240
Known GenesCCDC129
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431427
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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