A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439916



Internal ID15286869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176450513..176450565hg38UCSC Ensembl
Innerchr4:176450525..176450551hg38UCSC Ensembl
Outerchr4:176450499..176450579hg38UCSC Ensembl
chr4:177371664..177371716hg19UCSC Ensembl
Innerchr4:177371676..177371702hg19UCSC Ensembl
Outerchr4:177371650..177371730hg19UCSC Ensembl
chr4:177608658..177608710hg18UCSC Ensembl
Innerchr4:177608670..177608696hg18UCSC Ensembl
Outerchr4:177608644..177608724hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8922306, essv8922307
SamplesNA12761, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439916
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer