A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7745417



Internal ID14917577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126049227..126049228hg38UCSC Ensembl
Innerchr6:126049192..126049263hg38UCSC Ensembl
Outerchr6:126049191..126049264hg38UCSC Ensembl
chr6:126370373..126370374hg19UCSC Ensembl
Innerchr6:126370338..126370409hg19UCSC Ensembl
Outerchr6:126370337..126370410hg19UCSC Ensembl
chr6:126412066..126412067hg18UCSC Ensembl
Innerchr6:126412102..126412031hg18UCSC Ensembl
Outerchr6:126412030..126412103hg18UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304093
Supporting Variants
SamplesNA19147
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7745417
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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