A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6024966



Internal ID9002369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134955060..134955713hg38UCSC Ensembl
chr3:134673902..134674555hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2660214
Supporting Variants
SamplesHG01491
Known GenesEPHB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6024966
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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