A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415195



Internal ID15262154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38752236..38754834hg38UCSC Ensembl
Innerchr4:38753236..38753834hg38UCSC Ensembl
Outerchr4:38751236..38755834hg38UCSC Ensembl
chr4:38753857..38756455hg19UCSC Ensembl
Innerchr4:38754857..38755455hg19UCSC Ensembl
Outerchr4:38752857..38757455hg19UCSC Ensembl
chr4:38430252..38432850hg18UCSC Ensembl
Innerchr4:38431252..38431850hg18UCSC Ensembl
Outerchr4:38429252..38433850hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694413
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415195
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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