A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306032



Internal ID15152980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31317894..31317895hg38UCSC Ensembl
Innerchr13:31317866..31317923hg38UCSC Ensembl
Outerchr13:31317865..31317924hg38UCSC Ensembl
chr13:31892031..31892032hg19UCSC Ensembl
Innerchr13:31892003..31892060hg19UCSC Ensembl
Outerchr13:31892002..31892061hg19UCSC Ensembl
chr13:30790031..30790032hg18UCSC Ensembl
Innerchr13:30790060..30790003hg18UCSC Ensembl
Outerchr13:30790002..30790061hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7751113, essv7752705, essv7753922, essv7742571, essv7757596, essv7761852, essv7757953, essv7758069, essv7748208, essv7759944, essv7751285, essv7747262, essv7748432, essv7750741, essv7752343, essv7742680, essv7750610, essv7753766, essv7756786, essv7758801, essv7757005, essv7741989, essv7741853, essv7750006, essv7749324, essv7742285, essv7751684, essv7759469, essv7755366, essv7757279, essv7754409, essv7745112, essv7755233, essv7761161, essv7752260, essv7762914, essv7749489
SamplesNA11995, NA11829, NA12751, NA18545, NA12004, NA12155, NA19005, NA18940, NA18550, NA18519, NA12891, NA18558, NA18960, NA18582, NA18964, NA12828, NA18605, NA12878, NA18516, NA18579, NA18572, NA18566, NA18856, NA12249, NA12892, NA18532, NA19257, NA12144, NA19108, NA18564, NA07051, NA18943, NA06986, NA18501, NA18505, NA19129, NA18965
Known GenesB3GALTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306032
Frequency
Sample Size185
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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