A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304348



Internal ID15151296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130613141..130613142hg38UCSC Ensembl
Innerchr6:130613007..130613276hg38UCSC Ensembl
Outerchr6:130613006..130613277hg38UCSC Ensembl
chr6:130934286..130934287hg19UCSC Ensembl
Innerchr6:130934152..130934421hg19UCSC Ensembl
Outerchr6:130934151..130934422hg19UCSC Ensembl
chr6:130975979..130975980hg18UCSC Ensembl
Innerchr6:130976114..130975845hg18UCSC Ensembl
Outerchr6:130975844..130976115hg18UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3877
hg1977
hg1877
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756762, essv7748244
SamplesNA18573, NA18576
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304348
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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