A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7769506



Internal ID14910939
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 StatusS
Merged Variantsesv3306604
Supporting Variants
SamplesNA19141
Known GenesNXN
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7769506
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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