A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676360



Internal ID9942465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26975698..26977060hg38UCSC Ensembl
chr18:24555662..24557024hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381363
hg191363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6385198, essv6320264, essv6161341, essv5647065, essv6536723, essv5736773, essv6444166, essv5972173, essv6355738, essv5400544
SamplesHG00442, HG00693, NA19678, NA18605, HG00556, HG00690, NA18536, NA19783, NA18989, NA18623
Known GenesCHST9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676360
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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