A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394198



Internal ID14894477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152308452..152309050hg38UCSC Ensembl
Innerchr1:152308451..152309051hg38UCSC Ensembl
Outerchr1:152307452..152310050hg38UCSC Ensembl
chr1:152280928..152281526hg19UCSC Ensembl
Innerchr1:152280927..152281527hg19UCSC Ensembl
Outerchr1:152279928..152282526hg19UCSC Ensembl
chr1:150547552..150548150hg18UCSC Ensembl
Innerchr1:150548151..150547551hg18UCSC Ensembl
Outerchr1:150546552..150549150hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691981
SamplesNA19239
Known GenesFLG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394198
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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