A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439259



Internal ID15286212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73795121..73795133hg38UCSC Ensembl
Innerchr6:73795112..73795142hg38UCSC Ensembl
Outerchr6:73795098..73795154hg38UCSC Ensembl
chr6:74504844..74504856hg19UCSC Ensembl
Innerchr6:74504835..74504865hg19UCSC Ensembl
Outerchr6:74504821..74504877hg19UCSC Ensembl
chr6:74561565..74561577hg18UCSC Ensembl
Innerchr6:74561586..74561556hg18UCSC Ensembl
Outerchr6:74561542..74561598hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676556, essv8676560, essv8676555, essv8676557, essv8676558, essv8676559
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesCD109
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439259
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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