A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5953225



Internal ID8930628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58450295..58453551hg38UCSC Ensembl
chr17:56527656..56530912hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383257
hg193257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666333
Supporting Variants
SamplesHG00638
Known GenesHSF5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5953225
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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