A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304802



Internal ID15151750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:27641753..27641754hg38UCSC Ensembl
Innerchr7:27641713..27641794hg38UCSC Ensembl
Outerchr7:27641712..27641795hg38UCSC Ensembl
chr7:27681372..27681373hg19UCSC Ensembl
Innerchr7:27681332..27681413hg19UCSC Ensembl
Outerchr7:27681331..27681414hg19UCSC Ensembl
chr7:27647897..27647898hg18UCSC Ensembl
Innerchr7:27647938..27647857hg18UCSC Ensembl
Outerchr7:27647856..27647939hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752638
Samples
Known GenesHIBADH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304802
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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