A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676135



Internal ID15017055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116522973..116522993hg38UCSC Ensembl
Innerchr6:116522977..116522987hg38UCSC Ensembl
Outerchr6:116522959..116523007hg38UCSC Ensembl
chr6:116844136..116844156hg19UCSC Ensembl
Innerchr6:116844140..116844150hg19UCSC Ensembl
Outerchr6:116844122..116844170hg19UCSC Ensembl
chr6:116950829..116950849hg18UCSC Ensembl
Innerchr6:116950843..116950833hg18UCSC Ensembl
Outerchr6:116950815..116950863hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364800
Supporting Variants
SamplesNA19238
Known GenesTRAPPC3L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676135
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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