A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431293



Internal ID15278249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45811028..45813026hg38UCSC Ensembl
Innerchr7:45812026..45812028hg38UCSC Ensembl
Outerchr7:45810028..45814026hg38UCSC Ensembl
chr7:45850627..45852625hg19UCSC Ensembl
Innerchr7:45851625..45851627hg19UCSC Ensembl
Outerchr7:45849627..45853625hg19UCSC Ensembl
chr7:45817152..45819150hg18UCSC Ensembl
Innerchr7:45818152..45818150hg18UCSC Ensembl
Outerchr7:45816152..45820150hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3788e59
Supporting Variantsessv8695799
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431293
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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