A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329122



Internal ID15176109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41918787..41918806hg38UCSC Ensembl
Innerchr4:41918783..41918810hg38UCSC Ensembl
Outerchr4:41918764..41918829hg38UCSC Ensembl
chr4:41920804..41920823hg19UCSC Ensembl
Innerchr4:41920800..41920827hg19UCSC Ensembl
Outerchr4:41920781..41920846hg19UCSC Ensembl
chr4:41615561..41615580hg18UCSC Ensembl
Innerchr4:41615584..41615557hg18UCSC Ensembl
Outerchr4:41615538..41615603hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9614780, essv9614768
SamplesNA12814, NA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329122
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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