A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442538



Internal ID14942805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92701962..92701966hg38UCSC Ensembl
Innerchr1:92701954..92701974hg38UCSC Ensembl
Outerchr1:92701948..92701978hg38UCSC Ensembl
chr1:93167519..93167523hg19UCSC Ensembl
Innerchr1:93167511..93167531hg19UCSC Ensembl
Outerchr1:93167505..93167535hg19UCSC Ensembl
chr1:92940107..92940111hg18UCSC Ensembl
Innerchr1:92940119..92940099hg18UCSC Ensembl
Outerchr1:92940093..92940123hg18UCSC Ensembl
Cytoband1p22.1
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 Variantsessv8674159, essv8674158, essv8674155, essv8674156, essv8674157, essv8674152
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesEVI5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442538
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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