A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676803



Internal ID9942908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104599235..104609691hg38UCSC Ensembl
Outerchr9:104598864..104610061hg38UCSC Ensembl
Innerchr9:107361516..107371972hg19UCSC Ensembl
Outerchr9:107361145..107372342hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3811198
hg1911198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6492284, essv6564164, essv5576638, essv5401322, essv5690217, essv5470556, essv6278801, essv6041009, essv5614264, essv5566814, essv6228805
SamplesNA18486, NA19098, NA19171, NA18923, NA19130, NA18874, NA19200, NA19152, NA19256, NA18873, NA18487
Known GenesOR13C2, OR13C5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676803
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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