A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11063989



Internal ID1065805
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596885
Supporting Variants
SamplesHG02360
Known GenesPOU1F1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11063989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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