A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380260



Internal ID14880533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81846355..81846365hg38UCSC Ensembl
Innerchr1:81846349..81846369hg38UCSC Ensembl
Outerchr1:81846339..81846379hg38UCSC Ensembl
chr1:82312040..82312050hg19UCSC Ensembl
Innerchr1:82312034..82312054hg19UCSC Ensembl
Outerchr1:82312024..82312064hg19UCSC Ensembl
chr1:82084628..82084638hg18UCSC Ensembl
Innerchr1:82084642..82084622hg18UCSC Ensembl
Outerchr1:82084612..82084652hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674128, essv8674129
SamplesNA19239, NA19240
Known GenesLPHN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380260
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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