A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426809



Internal ID15273766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33155704..33155714hg38UCSC Ensembl
Innerchr7:33155700..33155716hg38UCSC Ensembl
Outerchr7:33155690..33155728hg38UCSC Ensembl
chr7:33195316..33195326hg19UCSC Ensembl
Innerchr7:33195312..33195328hg19UCSC Ensembl
Outerchr7:33195302..33195340hg19UCSC Ensembl
chr7:33161841..33161851hg18UCSC Ensembl
Innerchr7:33161853..33161837hg18UCSC Ensembl
Outerchr7:33161827..33161865hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676776, essv8676779, essv8676777, essv8676778
SamplesNA12891, NA19238, NA12878, NA12892
Known GenesBBS9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426809
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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