A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756762



Internal ID14199534
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 StatusS
Merged Variantsesv3304348
Supporting Variants
SamplesNA18576
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756762
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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