A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346908



Internal ID14847173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110380060..110380073hg38UCSC Ensembl
Innerchr1:110380062..110380071hg38UCSC Ensembl
Outerchr1:110380058..110380075hg38UCSC Ensembl
chr1:110922682..110922695hg19UCSC Ensembl
Innerchr1:110922684..110922693hg19UCSC Ensembl
Outerchr1:110922680..110922697hg19UCSC Ensembl
chr1:110724205..110724218hg18UCSC Ensembl
Innerchr1:110724207..110724216hg18UCSC Ensembl
Outerchr1:110724203..110724220hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863741
SamplesNA12005
Known GenesSLC16A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346908
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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