A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676216



Internal ID14705201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134366384..134366398hg38UCSC Ensembl
Innerchr6:134366382..134366398hg38UCSC Ensembl
Outerchr6:134366368..134366412hg38UCSC Ensembl
chr6:134687522..134687536hg19UCSC Ensembl
Innerchr6:134687520..134687536hg19UCSC Ensembl
Outerchr6:134687506..134687550hg19UCSC Ensembl
chr6:134729215..134729229hg18UCSC Ensembl
Innerchr6:134729229..134729213hg18UCSC Ensembl
Outerchr6:134729199..134729243hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426295
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676216
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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