A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382026



Internal ID14882302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22577572..22579670hg38UCSC Ensembl
Innerchr1:22578572..22578670hg38UCSC Ensembl
Outerchr1:22576572..22580670hg38UCSC Ensembl
chr1:22904065..22906163hg19UCSC Ensembl
Innerchr1:22905065..22905163hg19UCSC Ensembl
Outerchr1:22903065..22907163hg19UCSC Ensembl
chr1:22776652..22778750hg18UCSC Ensembl
Innerchr1:22777652..22777750hg18UCSC Ensembl
Outerchr1:22775652..22779750hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64e59
Supporting Variantsessv8692157
SamplesNA19240
Known GenesEPHA8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382026
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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