A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8932916



Internal ID14950174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126187893..126187905hg38UCSC Ensembl
Innerchr6:126187884..126187911hg38UCSC Ensembl
Outerchr6:126187872..126187926hg38UCSC Ensembl
chr6:126509039..126509051hg19UCSC Ensembl
Innerchr6:126509030..126509057hg19UCSC Ensembl
Outerchr6:126509018..126509072hg19UCSC Ensembl
chr6:126550732..126550744hg18UCSC Ensembl
Innerchr6:126550750..126550723hg18UCSC Ensembl
Outerchr6:126550711..126550765hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338987
Supporting Variants
SamplesNA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8932916
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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