A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677386



Internal ID9943491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8864916..8872470hg38UCSC Ensembl
chr9:8864916..8872470hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387555
hg197555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6092148, essv6004058, essv6234448, essv5702915
SamplesNA18633, HG01083, HG00637, NA18628
Known GenesPTPRD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677386
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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