A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672977



Internal ID9592396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82411892..82412054hg38UCSC Ensembl
chr17:80369768..80369930hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5723358, essv5463757, essv6433057, essv5580333, essv6527441, essv6198778, essv5947813, essv5934961, essv6419276, essv5432910, essv6367776, essv6290297, essv5991466, essv5493659, essv6027591, essv6510110, essv5449167
SamplesHG00442, NA18621, HG00524, NA18561, NA18530, NA18606, HG00281, NA19403, HG00701, HG00708, HG00463, HG00375, HG00319, HG00418, HG00513, NA18577, NA18620
Known GenesOGFOD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672977
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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