A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809424



Internal ID13652230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:132073286..132073600hg38UCSC Ensembl
Innerchr7:132073285..132073601hg38UCSC Ensembl
Outerchr7:132073176..132073720hg38UCSC Ensembl
chr7:131758045..131758359hg19UCSC Ensembl
Innerchr7:131758044..131758360hg19UCSC Ensembl
Outerchr7:131757935..131758479hg19UCSC Ensembl
chr7:131408585..131408899hg18UCSC Ensembl
Innerchr7:131408900..131408584hg18UCSC Ensembl
Outerchr7:131408475..131409019hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38315
hg19315
hg18315
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3416923
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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