A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151560



Internal ID1153376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130457359..130534694hg38UCSC Ensembl
chr3:130176203..130253538hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3877336
hg1977336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597770
Supporting Variants
SamplesHG04171
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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