A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661119



Internal ID9927224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:15553833..15563139hg38UCSC Ensembl
Outerchr9:15553796..15563189hg38UCSC Ensembl
Innerchr9:15553831..15563137hg19UCSC Ensembl
Outerchr9:15553794..15563187hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg389394
hg199394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6118572, essv6455378, essv6353458
SamplesHG00100, NA07048, NA12748
Known GenesCCDC171
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661119
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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