A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431419



Internal ID15278375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157547688..157547707hg38UCSC Ensembl
Innerchr6:157547684..157547711hg38UCSC Ensembl
Outerchr6:157547665..157547730hg38UCSC Ensembl
chr6:157968720..157968739hg19UCSC Ensembl
Innerchr6:157968716..157968743hg19UCSC Ensembl
Outerchr6:157968697..157968762hg19UCSC Ensembl
chr6:157888708..157888727hg18UCSC Ensembl
Innerchr6:157888731..157888704hg18UCSC Ensembl
Outerchr6:157888685..157888750hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679102, essv8679103
SamplesNA12878, NA19240
Known GenesZDHHC14
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431419
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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