A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731729



Internal ID14138752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48068990..48068991hg38UCSC Ensembl
Outerchr4:48068821..48069161hg38UCSC Ensembl
Innerchr4:48071007..48071008hg19UCSC Ensembl
Outerchr4:48070838..48071178hg19UCSC Ensembl
Innerchr4:47765765..47765764hg18UCSC Ensembl
Outerchr4:47765595..47765935hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38341
hg19341
hg18341
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302729
Supporting Variants
SamplesNA18943
Known GenesTXK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731729
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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