A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306200



Internal ID15153148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:10631054..10631055hg38UCSC Ensembl
Innerchr4:10631035..10631074hg38UCSC Ensembl
Outerchr4:10631034..10631075hg38UCSC Ensembl
chr4:10632678..10632679hg19UCSC Ensembl
Innerchr4:10632659..10632698hg19UCSC Ensembl
Outerchr4:10632658..10632699hg19UCSC Ensembl
chr4:10241776..10241777hg18UCSC Ensembl
Innerchr4:10241796..10241757hg18UCSC Ensembl
Outerchr4:10241756..10241797hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg386048
hg196048
hg186048
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7819269, essv7790717, essv7834852, essv7771018, essv7770563, essv7833611
SamplesNA12814, NA12815, NA10847, NA12043, NA12716, NA07000
Known GenesCLNK
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306200
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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