A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374376



Internal ID14874638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111552594..111552629hg38UCSC Ensembl
Innerchr3:111552592..111552631hg38UCSC Ensembl
Outerchr3:111552557..111552666hg38UCSC Ensembl
chr3:111271441..111271476hg19UCSC Ensembl
Innerchr3:111271439..111271478hg19UCSC Ensembl
Outerchr3:111271404..111271513hg19UCSC Ensembl
chr3:112754131..112754166hg18UCSC Ensembl
Innerchr3:112754168..112754129hg18UCSC Ensembl
Outerchr3:112754094..112754203hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8914941, essv8914939, essv8914944, essv8914940, essv8914942, essv8914938, essv8914943
SamplesNA18501, NA18516, NA18489, NA18912, NA18504, NA19138, NA18907
Known GenesCD96
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374376
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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