A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658466



Internal ID9924571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40310163..40311537hg38UCSC Ensembl
chr4:40312180..40313554hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6046306, essv6114810, essv5759052, essv6516985, essv5566391, essv6054040, essv5825954, essv5983479, essv6546779, essv6294214, essv5930254, essv5567261, essv5608313, essv5619135, essv6231734, essv5865367, essv6076905, essv5752490, essv5858076, essv6553136, essv6417558, essv5668971, essv6214750, essv6118580, essv5472131, essv5498217
SamplesNA12717, NA12842, NA18599, NA20816, NA18606, NA20771, NA20796, NA19005, NA18550, NA18582, NA19904, NA12889, HG00556, NA20770, NA19776, HG00479, NA12829, NA18856, NA18553, NA12827, NA19060, NA19102, NA20528, NA19004, NA18522, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658466
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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