A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627763



Internal ID7014591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112678992..112682827hg38UCSC Ensembl
Innerchr11:112679042..112682777hg38UCSC Ensembl
Outerchr11:112678923..112682896hg38UCSC Ensembl
chr11:112549715..112553550hg19UCSC Ensembl
Innerchr11:112549765..112553500hg19UCSC Ensembl
Outerchr11:112549646..112553619hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383836
hg193836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14287945, essv14287946, essv14287944, essv14287941, essv14287938, essv14287943, essv14287939, essv14287940, essv14287947, essv14287942, essv14287948, essv14287937
SamplesNA12750, NA20894, HG04059, HG03718, HG04180, HG01392, NA19000, NA19084, HG03643, NA20872, HG00107, HG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627763
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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