A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6481463



Internal ID9347827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18000083..18000247hg38UCSC Ensembl
chr17:17903397..17903561hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668379
Supporting Variants
SamplesNA18544
Known GenesLRRC48
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6481463
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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