A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380638



Internal ID15227610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134573002..134573026hg38UCSC Ensembl
Innerchr6:134572964..134573064hg38UCSC Ensembl
Outerchr6:134572940..134573088hg38UCSC Ensembl
chr6:134894140..134894164hg19UCSC Ensembl
Innerchr6:134894102..134894202hg19UCSC Ensembl
Outerchr6:134894078..134894226hg19UCSC Ensembl
chr6:134935833..134935857hg18UCSC Ensembl
Innerchr6:134935895..134935795hg18UCSC Ensembl
Outerchr6:134935771..134935919hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864652
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380638
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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