A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695182



Internal ID15017289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:256452..382850hg38UCSC Ensembl
Innerchr6:257452..381850hg38UCSC Ensembl
Outerchr6:255452..383850hg38UCSC Ensembl
chr6:256452..382850hg19UCSC Ensembl
Innerchr6:257452..381850hg19UCSC Ensembl
Outerchr6:255452..383850hg19UCSC Ensembl
chr6:201452..327850hg18UCSC Ensembl
Innerchr6:202452..326850hg18UCSC Ensembl
Outerchr6:200452..328850hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38126399
hg19126399
hg18126399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3368743
Supporting Variants
SamplesNA19238
Known GenesDUSP22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695182
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