A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600003



Internal ID6987047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:27691486..27702166hg38UCSC Ensembl
Innerchr4:27691508..27702144hg38UCSC Ensembl
Outerchr4:27691464..27702188hg38UCSC Ensembl
chr4:27693108..27703788hg19UCSC Ensembl
Innerchr4:27693130..27703766hg19UCSC Ensembl
Outerchr4:27693086..27703810hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3810681
hg1910681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11376079, essv11376080
SamplesNA18979, NA19091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600003
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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