A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383107



Internal ID14883383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69774863..69774892hg38UCSC Ensembl
Innerchr1:69774860..69774895hg38UCSC Ensembl
Outerchr1:69774831..69774924hg38UCSC Ensembl
chr1:70240546..70240575hg19UCSC Ensembl
Innerchr1:70240543..70240578hg19UCSC Ensembl
Outerchr1:70240514..70240607hg19UCSC Ensembl
chr1:70013134..70013163hg18UCSC Ensembl
Innerchr1:70013166..70013131hg18UCSC Ensembl
Outerchr1:70013102..70013195hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899305, essv8899304, essv8899302
SamplesNA19093, NA18505, NA18499
Known GenesLRRC7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383107
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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