A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838148



Internal ID13273646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149191550..149191551hg38UCSC Ensembl
Innerchr3:149191523..149191578hg38UCSC Ensembl
Outerchr3:149191522..149191579hg38UCSC Ensembl
chr3:148909337..148909338hg19UCSC Ensembl
Innerchr3:148909310..148909365hg19UCSC Ensembl
Outerchr3:148909309..148909366hg19UCSC Ensembl
chr3:150392027..150392028hg18UCSC Ensembl
Innerchr3:150392055..150392000hg18UCSC Ensembl
Outerchr3:150391999..150392056hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309338
Supporting Variants
SamplesNA12878
Known GenesCP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838148
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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