A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674679



Internal ID9940784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:58825042..58826047hg38UCSC Ensembl
Outerchr10:58825005..58826097hg38UCSC Ensembl
Innerchr10:60584802..60585807hg19UCSC Ensembl
Outerchr10:60584765..60585857hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5748287, essv5464248
SamplesNA18633, NA18579
Known GenesBICC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674679
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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