A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667394



Internal ID9933499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:88395024..88399125hg38UCSC Ensembl
Outerchr9:88394867..88399278hg38UCSC Ensembl
Innerchr9:91009939..91014040hg19UCSC Ensembl
Outerchr9:91009782..91014193hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg384412
hg194412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6394479, essv5993532, essv6329761, essv6009597, essv6442938, essv5849862, essv5778420, essv6453357, essv6224168
SamplesHG00242, HG00306, HG01488, HG00173, HG01069, HG01072, HG01171, NA19663, NA19652
Known GenesSPIN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667394
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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