A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8971591



Internal ID14283914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35133646..35133666hg38UCSC Ensembl
Innerchr17:35133645..35133664hg38UCSC Ensembl
Outerchr17:35133625..35133687hg38UCSC Ensembl
chr17:33460665..33460685hg19UCSC Ensembl
Innerchr17:33460664..33460683hg19UCSC Ensembl
Outerchr17:33460644..33460706hg19UCSC Ensembl
chr17:30484778..30484798hg18UCSC Ensembl
Innerchr17:30484796..30484777hg18UCSC Ensembl
Outerchr17:30484757..30484819hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410861
Supporting Variants
SamplesNA18960
Known GenesNLE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8971591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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