A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738483



Internal ID14738847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229453320..229453321hg38UCSC Ensembl
Outerchr1:229453131..229453511hg38UCSC Ensembl
Innerchr1:229589067..229589068hg19UCSC Ensembl
Outerchr1:229588878..229589258hg19UCSC Ensembl
Innerchr1:227655691..227655690hg18UCSC Ensembl
Outerchr1:227655501..227655881hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38381
hg19381
hg18381
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302775
Supporting Variants
SamplesNA19240
Known GenesNUP133
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738483
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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