A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306536



Internal ID15153484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33155703..33155704hg38UCSC Ensembl
Innerchr7:33155683..33155724hg38UCSC Ensembl
Outerchr7:33155682..33155725hg38UCSC Ensembl
chr7:33195315..33195316hg19UCSC Ensembl
Innerchr7:33195295..33195336hg19UCSC Ensembl
Outerchr7:33195294..33195337hg19UCSC Ensembl
chr7:33161840..33161841hg18UCSC Ensembl
Innerchr7:33161861..33161820hg18UCSC Ensembl
Outerchr7:33161819..33161862hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7804722, essv7828568, essv7790412, essv7817627, essv7772109, essv7782032, essv7800557, essv7829852, essv7828409, essv7779950
SamplesNA19141, NA12891, NA19238, NA12878, NA12234, NA11894, NA11840, NA12892, NA12874, NA19143
Known GenesBBS9
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306536
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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