A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5730060



Internal ID9679748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33470837..33471009hg38UCSC Ensembl
chr17:31797855..31798027hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666858
Supporting Variants
SamplesNA19430
Known GenesASIC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5730060
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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