A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740862



Internal ID14737624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18049956..18049956hg38UCSC Ensembl
Innerchr17:18049955..18049957hg38UCSC Ensembl
Outerchr17:18049906..18050006hg38UCSC Ensembl
chr17:17953270..17953270hg19UCSC Ensembl
Innerchr17:17953269..17953271hg19UCSC Ensembl
Outerchr17:17953220..17953320hg19UCSC Ensembl
chr17:17893995..17893995hg18UCSC Ensembl
Innerchr17:17893996..17893994hg18UCSC Ensembl
Outerchr17:17893945..17894045hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325943
Supporting Variants
SamplesNA19240
Known GenesGID4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740862
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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