A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6058575



Internal ID9035978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50303485..50310991hg38UCSC Ensembl
Outerchr3:50303114..50311361hg38UCSC Ensembl
Innerchr3:50340916..50348422hg19UCSC Ensembl
Outerchr3:50340545..50348792hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388248
hg198248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665476
Supporting Variants
SamplesNA19455
Known GenesHYAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6058575
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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