A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7779539



Internal ID14414272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149191554..149191555hg38UCSC Ensembl
Innerchr3:149191538..149191571hg38UCSC Ensembl
Outerchr3:149191537..149191572hg38UCSC Ensembl
chr3:148909341..148909342hg19UCSC Ensembl
Innerchr3:148909325..148909358hg19UCSC Ensembl
Outerchr3:148909324..148909359hg19UCSC Ensembl
chr3:150392031..150392032hg18UCSC Ensembl
Innerchr3:150392048..150392015hg18UCSC Ensembl
Outerchr3:150392014..150392049hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38196
hg19196
hg18196
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305220
Supporting Variants
SamplesNA18907
Known GenesCP
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7779539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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