A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5654747



Internal ID9612919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82974999..82976965hg38UCSC Ensembl
chr17:80932875..80934841hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381967
hg191967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665906
Supporting Variants
SamplesNA19313
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5654747
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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