A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14310274



Internal ID3246188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129724666..129727082hg38UCSC Ensembl
Innerchr11:129724677..129727072hg38UCSC Ensembl
Outerchr11:129724656..129727093hg38UCSC Ensembl
chr11:129594561..129596977hg19UCSC Ensembl
Innerchr11:129594572..129596967hg19UCSC Ensembl
Outerchr11:129594551..129596988hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382417
hg192417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628070
Supporting Variants
SamplesHG02860
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14310274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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