A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678852



Internal ID9944957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:105610091..105611054hg38UCSC Ensembl
Outerchr9:105609934..105611207hg38UCSC Ensembl
Innerchr9:108372372..108373335hg19UCSC Ensembl
Outerchr9:108372215..108373488hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6557817, essv5426309, essv5585068
SamplesNA18519, NA19225, NA19900
Known GenesFKTN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678852
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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