A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450305



Internal ID15297253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83399347..83399366hg38UCSC Ensembl
Innerchr7:83399343..83399370hg38UCSC Ensembl
Outerchr7:83399324..83399389hg38UCSC Ensembl
chr7:83028663..83028682hg19UCSC Ensembl
Innerchr7:83028659..83028686hg19UCSC Ensembl
Outerchr7:83028640..83028705hg19UCSC Ensembl
chr7:82866599..82866618hg18UCSC Ensembl
Innerchr7:82866622..82866595hg18UCSC Ensembl
Outerchr7:82866576..82866641hg18UCSC Ensembl
Cytoband7q21.11
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 Variantsessv9634814
SamplesNA18970
Known GenesSEMA3E
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450305
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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