A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8918319



Internal ID13081673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42086021..42086037hg38UCSC Ensembl
Innerchr4:42086012..42086046hg38UCSC Ensembl
Outerchr4:42085993..42086062hg38UCSC Ensembl
chr4:42088038..42088054hg19UCSC Ensembl
Innerchr4:42088029..42088063hg19UCSC Ensembl
Outerchr4:42088010..42088079hg19UCSC Ensembl
chr4:41782795..41782811hg18UCSC Ensembl
Innerchr4:41782820..41782786hg18UCSC Ensembl
Outerchr4:41782767..41782836hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338758
Supporting Variants
SamplesNA07357
Known GenesSLC30A9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8918319
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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