A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695033



Internal ID14703501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130683514..130684312hg38UCSC Ensembl
Innerchr6:130683513..130684313hg38UCSC Ensembl
Outerchr6:130682514..130685312hg38UCSC Ensembl
chr6:131004659..131005457hg19UCSC Ensembl
Innerchr6:131004658..131005458hg19UCSC Ensembl
Outerchr6:131003659..131006457hg19UCSC Ensembl
chr6:131046352..131047150hg18UCSC Ensembl
Innerchr6:131047151..131046351hg18UCSC Ensembl
Outerchr6:131045352..131048150hg18UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3434974
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695033
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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