A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838599



Internal ID15007196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157547567..157547568hg38UCSC Ensembl
Innerchr6:157547431..157547704hg38UCSC Ensembl
Outerchr6:157547430..157547705hg38UCSC Ensembl
chr6:157968599..157968600hg19UCSC Ensembl
Innerchr6:157968463..157968736hg19UCSC Ensembl
Outerchr6:157968462..157968737hg19UCSC Ensembl
chr6:157888587..157888588hg18UCSC Ensembl
Innerchr6:157888724..157888451hg18UCSC Ensembl
Outerchr6:157888450..157888725hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386033
hg196033
hg186033
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309699
Supporting Variants
SamplesNA19238
Known GenesZDHHC14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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