A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446152



Internal ID15293102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80793835..80793854hg38UCSC Ensembl
Innerchr7:80793831..80793858hg38UCSC Ensembl
Outerchr7:80793812..80793877hg38UCSC Ensembl
chr7:80423151..80423170hg19UCSC Ensembl
Innerchr7:80423147..80423174hg19UCSC Ensembl
Outerchr7:80423128..80423193hg19UCSC Ensembl
chr7:80261087..80261106hg18UCSC Ensembl
Innerchr7:80261110..80261083hg18UCSC Ensembl
Outerchr7:80261064..80261129hg18UCSC 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 Variantsessv9634592, essv9634581
SamplesNA12045, NA12287
Known GenesSEMA3C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446152
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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