A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657887



Internal ID9923992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130547423..130550406hg38UCSC Ensembl
Outerchr9:130547266..130550559hg38UCSC Ensembl
Innerchr9:133422810..133425793hg19UCSC Ensembl
Outerchr9:133422653..133425946hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383294
hg193294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6301015, essv5769156, essv6174982
SamplesNA19982, NA18907, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657887
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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