A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11264315



Internal ID3423696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188216390..188268703hg38UCSC Ensembl
Innerchr3:188216540..188268553hg38UCSC Ensembl
Outerchr3:188216240..188268853hg38UCSC Ensembl
chr3:187934178..187986491hg19UCSC Ensembl
Innerchr3:187934328..187986341hg19UCSC Ensembl
Outerchr3:187934028..187986641hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3852314
hg1952314
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599024
Supporting Variants
SamplesHG03061
Known GenesLPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11264315
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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