A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306604



Internal ID15153552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:831917..831918hg38UCSC Ensembl
Innerchr17:831895..831940hg38UCSC Ensembl
Outerchr17:831894..831941hg38UCSC Ensembl
chr17:735157..735158hg19UCSC Ensembl
Innerchr17:735135..735180hg19UCSC Ensembl
Outerchr17:735134..735181hg19UCSC Ensembl
chr17:681907..681908hg18UCSC Ensembl
Innerchr17:681930..681885hg18UCSC Ensembl
Outerchr17:681884..681931hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763850, essv7769506, essv7765594, essv7766178, essv7765907
SamplesNA19141, NA18969, NA12815, NA12873, NA19143
Known GenesNXN
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306604
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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