A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7839769



Internal ID13621092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501161..45501162hg38UCSC Ensembl
Innerchr3:45501145..45501178hg38UCSC Ensembl
Outerchr3:45501144..45501179hg38UCSC Ensembl
chr3:45542653..45542654hg19UCSC Ensembl
Innerchr3:45542637..45542670hg19UCSC Ensembl
Outerchr3:45542636..45542671hg19UCSC Ensembl
chr3:45517657..45517658hg18UCSC Ensembl
Innerchr3:45517674..45517641hg18UCSC Ensembl
Outerchr3:45517640..45517675hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310117
Supporting Variants
SamplesNA12878
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7839769
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer