A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302729



Internal ID14802991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48068920..48069061hg38UCSC Ensembl
Innerchr4:48068990..48068990hg38UCSC Ensembl
Outerchr4:48068820..48069161hg38UCSC Ensembl
chr4:48070937..48071078hg19UCSC Ensembl
Innerchr4:48071007..48071007hg19UCSC Ensembl
Outerchr4:48070837..48071178hg19UCSC Ensembl
chr4:47765694..47765835hg18UCSC Ensembl
Innerchr4:47765764..47765764hg18UCSC Ensembl
Outerchr4:47765594..47765935hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38142
hg19142
hg18142
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738219, essv7732325, essv7735728, essv7733290, essv7732769, essv7734807, essv7735453, essv7738707, essv7736843, essv7731900, essv7732925, essv7733704, essv7735198, essv7734588, essv7738762, essv7731729, essv7731972, essv7732517, essv7737219, essv7736684, essv7732907, essv7732152, essv7733858, essv7738137, essv7738394, essv7735044
SamplesNA18947, NA18980, NA18870, NA18510, NA18563, NA18944, NA18558, NA18960, NA18916, NA18582, NA18973, NA18605, NA18956, NA18572, NA18948, NA19114, NA18608, NA18953, NA18542, NA18961, NA19147, NA18943, NA07037, NA18511, NA18522, NA18965
Known GenesTXK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302729
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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