A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425815



Internal ID15272772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157547652..157547724hg38UCSC Ensembl
Innerchr6:157547634..157547742hg38UCSC Ensembl
Outerchr6:157547562..157547811hg38UCSC Ensembl
chr6:157968684..157968756hg19UCSC Ensembl
Innerchr6:157968666..157968774hg19UCSC Ensembl
Outerchr6:157968594..157968843hg19UCSC Ensembl
chr6:157888672..157888744hg18UCSC Ensembl
Innerchr6:157888762..157888654hg18UCSC Ensembl
Outerchr6:157888582..157888831hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386033
hg196033
hg186033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3686e59
Supporting Variantsessv8676266, essv8676269, essv8676263, essv8676267, essv8676268, essv8676262
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesZDHHC14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425815
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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