A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694239



Internal ID15042603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:146747050..146748548hg38UCSC Ensembl
Innerchr4:146747548..146748050hg38UCSC Ensembl
Outerchr4:146746050..146749548hg38UCSC Ensembl
chr4:147668202..147669700hg19UCSC Ensembl
Innerchr4:147668700..147669202hg19UCSC Ensembl
Outerchr4:147667202..147670700hg19UCSC Ensembl
chr4:147887652..147889150hg18UCSC Ensembl
Innerchr4:147888652..147888150hg18UCSC Ensembl
Outerchr4:147886652..147890150hg18UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400518
Supporting Variants
SamplesNA19239
Known GenesTTC29
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694239
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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