A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338016



Internal ID15185003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45741582..45741593hg38UCSC Ensembl
Innerchr17:45741572..45741600hg38UCSC Ensembl
Outerchr17:45741561..45741611hg38UCSC Ensembl
chr17:43818948..43818959hg19UCSC Ensembl
Innerchr17:43818938..43818966hg19UCSC Ensembl
Outerchr17:43818927..43818977hg19UCSC Ensembl
chr17:41174719..41174730hg18UCSC Ensembl
Innerchr17:41174737..41174709hg18UCSC Ensembl
Outerchr17:41174698..41174748hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8971639, essv8971651, essv8971643, essv8971646, essv8971650, essv8971654, essv8971645, essv8971660, essv8971642, essv8971656, essv8971641, essv8971648, essv8971655, essv8971644, essv8971659, essv8971640, essv8971649, essv8971653, essv8971638, essv8971652, essv8971657
SamplesNA18502, NA18861, NA18508, NA18507, NA19190, NA18870, NA18498, NA19137, NA19172, NA18516, NA18871, NA18907, NA18853, NA19099, NA19257, NA18858, NA18909, NA18501, NA19116, NA18505, NA19129
Known GenesCRHR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338016
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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