A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8931123



Internal ID14605925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:85238007..85238017hg38UCSC Ensembl
Innerchr6:85238001..85238021hg38UCSC Ensembl
Outerchr6:85237991..85238031hg38UCSC Ensembl
chr6:85947725..85947735hg19UCSC Ensembl
Innerchr6:85947719..85947739hg19UCSC Ensembl
Outerchr6:85947709..85947749hg19UCSC Ensembl
chr6:86004444..86004454hg18UCSC Ensembl
Innerchr6:86004458..86004438hg18UCSC Ensembl
Outerchr6:86004428..86004468hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg382201
hg192201
hg182201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3339265
Supporting Variants
SamplesNA18956
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8931123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer