A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6173249



Internal ID9150652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45764570..45765081hg38UCSC Ensembl
chr3:45806062..45806573hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670527
Supporting Variants
SamplesNA19393
Known GenesSLC6A20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6173249
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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