A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659500



Internal ID9925605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41563438..41563517hg38UCSC Ensembl
chr18:39143402..39143481hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5425698, essv6278227, essv5468340, essv6147008, essv5430679, essv5696569, essv6154615, essv6595474, essv5407329, essv6411899, essv6175651, essv6350839, essv5765177, essv6138539, essv6581877
SamplesNA18592, NA12751, NA18870, NA18582, NA19238, NA18572, NA19114, NA12249, NA12892, NA12144, NA18608, NA12716, NA19102, NA19129, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659500
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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