A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596885



Internal ID6637155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:87265407..87268233hg38UCSC Ensembl
Innerchr3:87265907..87267733hg38UCSC Ensembl
Outerchr3:87264407..87269233hg38UCSC Ensembl
chr3:87314557..87317383hg19UCSC Ensembl
Innerchr3:87315057..87316883hg19UCSC Ensembl
Outerchr3:87313557..87318383hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg382827
hg192827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11063990, essv11063989
SamplesHG02360, HG02399
Known GenesPOU1F1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596885
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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