A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376756



Internal ID14877021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50479037..50479056hg38UCSC Ensembl
Innerchr10:50479033..50479060hg38UCSC Ensembl
Outerchr10:50479014..50479079hg38UCSC Ensembl
chr10:52238797..52238816hg19UCSC Ensembl
Innerchr10:52238793..52238820hg19UCSC Ensembl
Outerchr10:52238774..52238839hg19UCSC Ensembl
chr10:51908803..51908822hg18UCSC Ensembl
Innerchr10:51908826..51908799hg18UCSC Ensembl
Outerchr10:51908780..51908845hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9647236, essv9647202, essv9647225, essv9647247, essv9647213
SamplesNA11881, NA11931, NA12873, NA12234, NA12812
Known GenesSGMS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376756
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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