A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5488088



Internal ID8465491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60986465..60987590hg38UCSC Ensembl
chr17:59063826..59064951hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2660744
Supporting Variants
SamplesHG00707
Known GenesBCAS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5488088
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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