A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403723



Internal ID15250685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55230870..55230886hg38UCSC Ensembl
Innerchr17:55230863..55230891hg38UCSC Ensembl
Outerchr17:55230849..55230907hg38UCSC Ensembl
chr17:53308231..53308247hg19UCSC Ensembl
Innerchr17:53308224..53308252hg19UCSC Ensembl
Outerchr17:53308210..53308268hg19UCSC Ensembl
chr17:50663230..50663246hg18UCSC Ensembl
Innerchr17:50663251..50663223hg18UCSC Ensembl
Outerchr17:50663209..50663267hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38231
hg19231
hg18231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8971983, essv8971989, essv8971976, essv8971973, essv8971981, essv8971975, essv8971988, essv8971984, essv8971978, essv8971977, essv8971987, essv8971985, essv8971982, essv8971986, essv8971979, essv8971974
SamplesNA18558, NA18960, NA18571, NA18951, NA18956, NA18572, NA18537, NA18566, NA18532, NA18555, NA18570, NA18593, NA18608, NA18961, NA06986, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403723
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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