A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349303



Internal ID14849568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325556..28325563hg38UCSC Ensembl
Innerchr6:28325549..28325570hg38UCSC Ensembl
Outerchr6:28325542..28325577hg38UCSC Ensembl
chr6:28293333..28293340hg19UCSC Ensembl
Innerchr6:28293326..28293347hg19UCSC Ensembl
Outerchr6:28293319..28293354hg19UCSC Ensembl
chr6:28401312..28401319hg18UCSC Ensembl
Innerchr6:28401326..28401305hg18UCSC Ensembl
Outerchr6:28401298..28401333hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676360, essv8676359
SamplesNA19239, NA19240
Known GenesZSCAN31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349303
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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