A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695128



Internal ID15050995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169242632..169243130hg38UCSC Ensembl
Innerchr6:169242631..169243131hg38UCSC Ensembl
Outerchr6:169241632..169244130hg38UCSC Ensembl
chr6:169642727..169643225hg19UCSC Ensembl
Innerchr6:169642726..169643226hg19UCSC Ensembl
Outerchr6:169641727..169644225hg19UCSC Ensembl
chr6:169384652..169385150hg18UCSC Ensembl
Innerchr6:169385151..169384651hg18UCSC Ensembl
Outerchr6:169383652..169386150hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386316
Supporting Variants
SamplesNA19239
Known GenesTHBS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695128
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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