A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599731



Internal ID6639994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14685624..14792911hg38UCSC Ensembl
Innerchr4:14685774..14792761hg38UCSC Ensembl
Outerchr4:14685474..14793061hg38UCSC Ensembl
chr4:14687248..14794535hg19UCSC Ensembl
Innerchr4:14687398..14794385hg19UCSC Ensembl
Outerchr4:14687098..14794685hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38107288
hg19107288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv988e214
Supporting Variantsessv11359763, essv11359762, essv11359764
SamplesNA19023, NA19917, NA19436
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599731
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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