A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305220



Internal ID15152168
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 StatusM
Merged Variants
Supporting Variantsessv7779539, essv7791870, essv7799618, essv7832863, essv7817068, essv7789741, essv7811202, essv7806354, essv7793076, essv7831302, essv7802168, essv7771623, essv7815850, essv7811951, essv7816452, essv7782210, essv7775078
SamplesNA19141, NA18504, NA19190, NA18519, NA18489, NA18498, NA19137, NA19239, NA19210, NA18871, NA18907, NA19099, NA18523, NA18517, NA19240, NA18501, NA19129
Known GenesCP
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305220
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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