A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664250



Internal ID9930355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105112650..105113350hg38UCSC Ensembl
chr9:107874931..107875631hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6334172, essv5901496, essv5849957, essv6064639, essv5803824, essv6188025, essv5576798, essv5880678, essv5903208, essv5706204, essv5658773, essv6184649, essv6210429, essv5476408, essv6342004, essv6223773, essv6092684, essv6416424, essv5442002, essv5629985, essv5583333, essv6422184
SamplesNA19394, NA18502, NA19397, NA19819, NA19396, NA19171, NA19383, NA19372, NA19908, NA19247, NA19462, NA18856, NA19257, NA19225, NA19321, NA19147, NA18517, NA19434, NA19473, NA19324, NA19360, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664250
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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