A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303537



Internal ID14803799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89904992..89904993hg38UCSC Ensembl
Innerchr1:89904956..89905029hg38UCSC Ensembl
Outerchr1:89904955..89905030hg38UCSC Ensembl
chr1:90370551..90370552hg19UCSC Ensembl
Innerchr1:90370515..90370588hg19UCSC Ensembl
Outerchr1:90370514..90370589hg19UCSC Ensembl
chr1:90143139..90143140hg18UCSC Ensembl
Innerchr1:90143176..90143103hg18UCSC Ensembl
Outerchr1:90143102..90143177hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761094, essv7752238, essv7748212, essv7750729, essv7749124, essv7752387, essv7761728, essv7742983, essv7756826
SamplesNA18573, NA11919, NA12004, NA12761, NA12751, NA07346, NA06986, NA19238, NA11830
Known GenesLRRC8D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303537
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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