A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332878



Internal ID15179865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1513819..1515729hg38UCSC Ensembl
Innerchr4:1514723..1514825hg38UCSC Ensembl
Outerchr4:1512798..1516729hg38UCSC Ensembl
chr4:1515546..1517456hg19UCSC Ensembl
Innerchr4:1516450..1516552hg19UCSC Ensembl
Outerchr4:1514525..1518456hg19UCSC Ensembl
chr4:1484852..1486750hg18UCSC Ensembl
Innerchr4:1485852..1485750hg18UCSC Ensembl
Outerchr4:1483852..1487750hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381911
hg191911
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2918e59
Supporting Variantsessv8694240
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332878
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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