A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657146



Internal ID2890233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42441416..42442063hg38UCSC Ensembl
chr8:42298934..42299581hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5973678, essv5573259, essv6573102, essv5409667, essv6331981, essv5935613, essv6399900
SamplesNA19904, NA19223, NA19359, NA19985, NA19247, NA19347, NA18908
Known GenesSLC20A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657146
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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