A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6254848



Internal ID9232251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7077391..7077683hg38UCSC Ensembl
chr17:6980710..6981002hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657406
Supporting Variants
SamplesHG00512
Known GenesCLEC10A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6254848
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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