A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326702



Internal ID15173685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70126109..70126109hg38UCSC Ensembl
Innerchr3:70126108..70126110hg38UCSC Ensembl
Outerchr3:70126059..70126159hg38UCSC Ensembl
chr3:70175260..70175260hg19UCSC Ensembl
Innerchr3:70175259..70175261hg19UCSC Ensembl
Outerchr3:70175210..70175310hg19UCSC Ensembl
chr3:70257950..70257950hg18UCSC Ensembl
Innerchr3:70257951..70257949hg18UCSC Ensembl
Outerchr3:70257900..70258000hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381543
hg191543
hg181543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741105
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326702
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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