A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7749628



Internal ID14809972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47370179..47370180hg38UCSC Ensembl
Innerchr6:47370151..47370208hg38UCSC Ensembl
Outerchr6:47370150..47370209hg38UCSC Ensembl
chr6:47337915..47337916hg19UCSC Ensembl
Innerchr6:47337887..47337944hg19UCSC Ensembl
Outerchr6:47337886..47337945hg19UCSC Ensembl
chr6:47445874..47445875hg18UCSC Ensembl
Innerchr6:47445903..47445846hg18UCSC Ensembl
Outerchr6:47445845..47445904hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305810
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7749628
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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