A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14039740



Internal ID1427877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17112814..17113954hg38UCSC Ensembl
Innerchr11:17112814..17113954hg38UCSC Ensembl
Outerchr11:17112576..17114178hg38UCSC Ensembl
chr11:17134361..17135501hg19UCSC Ensembl
Innerchr11:17134361..17135501hg19UCSC Ensembl
Outerchr11:17134123..17135725hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381141
hg191141
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625466
Supporting Variants
SamplesHG01308
Known GenesPIK3C2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14039740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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