A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305667



Internal ID14805929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111552602..111552603hg38UCSC Ensembl
Innerchr3:111552582..111552623hg38UCSC Ensembl
Outerchr3:111552581..111552624hg38UCSC Ensembl
chr3:111271449..111271450hg19UCSC Ensembl
Innerchr3:111271429..111271470hg19UCSC Ensembl
Outerchr3:111271428..111271471hg19UCSC Ensembl
chr3:112754139..112754140hg18UCSC Ensembl
Innerchr3:112754160..112754119hg18UCSC Ensembl
Outerchr3:112754118..112754161hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7779418, essv7806171, essv7814088, essv7792315, essv7831827, essv7829715, essv7812142, essv7793114
SamplesNA18501, NA18516, NA18489, NA19143, NA18912, NA18504, NA19138, NA18907
Known GenesCD96
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305667
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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