A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433883



Internal ID15280838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:268452..383650hg38UCSC Ensembl
Innerchr6:269452..382650hg38UCSC Ensembl
Outerchr6:267452..384650hg38UCSC Ensembl
chr6:268452..383650hg19UCSC Ensembl
Innerchr6:269452..382650hg19UCSC Ensembl
Outerchr6:267452..384650hg19UCSC Ensembl
chr6:213452..328650hg18UCSC Ensembl
Innerchr6:214452..327650hg18UCSC Ensembl
Outerchr6:212452..329650hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38115199
hg19115199
hg18115199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3438e59
Supporting Variantsessv8695188
SamplesNA12891
Known GenesDUSP22
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433883
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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