A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695183



Internal ID15091300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:256452..383250hg38UCSC Ensembl
Innerchr6:257452..382250hg38UCSC Ensembl
Outerchr6:255452..384250hg38UCSC Ensembl
chr6:256452..383250hg19UCSC Ensembl
Innerchr6:257452..382250hg19UCSC Ensembl
Outerchr6:255452..384250hg19UCSC Ensembl
chr6:201452..328250hg18UCSC Ensembl
Innerchr6:202452..327250hg18UCSC Ensembl
Outerchr6:200452..329250hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38126799
hg19126799
hg18126799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3392251
Supporting Variants
SamplesNA19240
Known GenesDUSP22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695183
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