A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387700



Internal ID15234669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66906295..66906314hg38UCSC Ensembl
Innerchr7:66906291..66906318hg38UCSC Ensembl
Outerchr7:66906272..66906337hg38UCSC Ensembl
chr7:66371282..66371301hg19UCSC Ensembl
Innerchr7:66371278..66371305hg19UCSC Ensembl
Outerchr7:66371259..66371324hg19UCSC Ensembl
chr7:66008717..66008736hg18UCSC Ensembl
Innerchr7:66008740..66008713hg18UCSC Ensembl
Outerchr7:66008694..66008759hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9634436
SamplesNA07347
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387700
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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