A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9634581



Internal ID13369802
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 StatusS
Merged Variantsesv3446152
Supporting Variants
SamplesNA12045
Known GenesSEMA3C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9634581
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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