A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438966



Internal ID15285919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109781772..109781778hg38UCSC Ensembl
Innerchr6:109781764..109781786hg38UCSC Ensembl
Outerchr6:109781758..109781790hg38UCSC Ensembl
chr6:110102975..110102981hg19UCSC Ensembl
Innerchr6:110102967..110102989hg19UCSC Ensembl
Outerchr6:110102961..110102993hg19UCSC Ensembl
chr6:110209668..110209674hg18UCSC Ensembl
Innerchr6:110209682..110209660hg18UCSC Ensembl
Outerchr6:110209654..110209686hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676118, essv8676117, essv8676119
SamplesNA12891, NA12878, NA12892
Known GenesFIG4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438966
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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