A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424029



Internal ID15270986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169913429..169913448hg38UCSC Ensembl
Innerchr4:169913425..169913452hg38UCSC Ensembl
Outerchr4:169913406..169913471hg38UCSC Ensembl
chr4:170834580..170834599hg19UCSC Ensembl
Innerchr4:170834576..170834603hg19UCSC Ensembl
Outerchr4:170834557..170834622hg19UCSC Ensembl
chr4:171071155..171071174hg18UCSC Ensembl
Innerchr4:171071178..171071151hg18UCSC Ensembl
Outerchr4:171071132..171071197hg18UCSC Ensembl
Cytoband4q33
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 Variantsessv9619237, essv9619259, essv9619292, essv9619325, essv9619248, essv9619270, essv9619314, essv9619303, essv9619281
SamplesNA12812, NA07347, NA12287, NA18970, NA12815, NA12043, NA12873, NA12874, NA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424029
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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