A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410861



Internal ID14911135
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 StatusM
Merged Variants
Supporting Variantsessv8971589, essv8971593, essv8971583, essv8971586, essv8971590, essv8971585, essv8971591, essv8971588, essv8971594, essv8971587, essv8971584
SamplesNA19114, NA18545, NA18947, NA18576, NA18960, NA18956, NA18558, NA18564, NA18940, NA19138, NA18577
Known GenesNLE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410861
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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