A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394931



Internal ID15241895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49153115..49154713hg38UCSC Ensembl
Innerchr3:49153713..49154115hg38UCSC Ensembl
Outerchr3:49152115..49155713hg38UCSC Ensembl
chr3:49190548..49192146hg19UCSC Ensembl
Innerchr3:49191146..49191548hg19UCSC Ensembl
Outerchr3:49189548..49193146hg19UCSC Ensembl
chr3:49165552..49167150hg18UCSC Ensembl
Innerchr3:49166552..49166150hg18UCSC Ensembl
Outerchr3:49164552..49168150hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694091
SamplesNA19239
Known GenesLAMB2P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394931
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