A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7747092



Internal ID14865638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135362126..135362127hg38UCSC Ensembl
Innerchr3:135362088..135362165hg38UCSC Ensembl
Outerchr3:135362087..135362166hg38UCSC Ensembl
chr3:135080968..135080969hg19UCSC Ensembl
Innerchr3:135080930..135081007hg19UCSC Ensembl
Outerchr3:135080929..135081008hg19UCSC Ensembl
chr3:136563658..136563659hg18UCSC Ensembl
Innerchr3:136563697..136563620hg18UCSC Ensembl
Outerchr3:136563619..136563698hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306974
Supporting Variants
SamplesNA19114
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7747092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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